Full data view for gene MC4R

Information The variants shown are described using the NM_005912.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
Legend  

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
./. c.-386G>A p.(=) - - - - r.(=) - Unknown - g.58039968C>T - - - MC4R_000042 MSCV_0018556 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-375G>T p.(=) - - - - r.(=) - Unknown - g.58039957C>A - - - MC4R_000041 MSCV_0018555 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-220G>A p.(=) - - - - r.(=) - Unknown - g.58039802C>T - - - MC4R_000040 MSCV_0018554 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-178A>C p.(=) - - - - r.(=) - Unknown - g.58039760T>G - - - MC4R_000039 MSCV_0018553 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-161C>T p.(=) - - - - r.(=) - Unknown - g.58039743G>A - - - MC4R_000038 MSCV_0018552 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-66C>T p.(=) - - - - r.(=) - Unknown - g.58039648G>A - - - MC4R_000037 MSCV_0018551 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-60C>G p.(=) - - - - r.(=) - Unknown - g.58039642G>C - - - MC4R_000036 MSCV_0018550 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.-18T>C p.(=) - - - - r.(=) - Unknown - g.58039600A>G - - - MC4R_000033 MSCV_0018549 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.63_64del p.(Tyr21*) - - - - r.(?) - Unknown - g.58039519_58039520del - - - MC4R_000032 MSCV_0018548 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.105C>A p.(Tyr35*) stop_gained - 1/1 - r.(?) - Unknown subst g.58039478G>T - 3.720 - MC4R_000009 MSCV_0000749 rs13447324 - ; clinVar; Ensembl; 10199800;16507637;18801902;10577903 - - - - - - - - - - - - - - - - - - - -
./. c.105C>A p.(Tyr35*) - - - - r.(?) - Unknown - g.58039478G>T - - - MC4R_000009 MSCV_0000749 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.110A>T p.(Asp37Val) missense_variant - 1/1 benign(0.01) r.(?) tolerated(0.17) Unknown subst g.58039473T>A - 4.400 - MC4R_000008 MSCV_0000748 rs13447325 - ; clinVar; Ensembl; 12646665;18801902;16507637;20966905;10199800;12970296;19301229 - - - - - - - - - - - - - - - - - - - -
./. c.110A>T p.(Asp37Val) - - - - r.(?) - Unknown - g.58039473T>A - - - MC4R_000008 MSCV_0000748 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.148G>A p.(Val50Met) missense_variant - 1/1 probably_damaging(0.994) r.(?) deleterious(0.02) Unknown subst g.58039435C>T - 5.560 - MC4R_000007 MSCV_0000747 rs121913557 - ; clinVar; Ensembl; 11487744 - - - - - - - - - - - - - - - - - - - -
./. c.148G>A p.(Val50Met) - - - - r.(?) - Unknown - g.58039435C>T - - - MC4R_000007 MSCV_0000747 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.161T>C p.(Leu54Pro) - - - - r.(?) - Unknown - g.58039422A>G - - - MC4R_000031 MSCV_0018544 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.172A>T p.(Ser58Cys) missense_variant - 1/1 probably_damaging(0.993) r.(?) deleterious(0) Unknown subst g.58039411T>A - 5.560 - MC4R_000006 MSCV_0000746 rs121913558 - ; clinVar; Ensembl; 11487744 - - - - - - - - - - - - - - - - - - - -
./. c.172A>T p.(Ser58Cys) - - - - r.(?) - Unknown - g.58039411T>A - - - MC4R_000006 MSCV_0000746 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.181G>A p.(Glu61Lys) - - - - r.(?) - Unknown - g.58039402C>T - - - MC4R_000030 MSCV_0018542 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.185A>G p.(Asn62Ser) missense_variant - 1/1 probably_damaging(0.992) r.(?) deleterious(0) Unknown subst g.58039398T>C - 5.560 - MC4R_000005 MSCV_0000745 rs121913566 - ; clinVar; Ensembl; 12646665 - - - - - - - - - - - - - - - - - - - -
./. c.185A>G p.(Asn62Ser) - - - - r.(?) - Unknown - g.58039398T>C - - - MC4R_000005 MSCV_0000745 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.201G>A p.(=) - - - - r.(=) - Unknown - g.58039382C>T - - - MC4R_000029 MSCV_0018540 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.289A>G p.(Asn97Asp) missense_variant - 1/1 probably_damaging(0.995) r.(?) deleterious(0.02) Unknown subst g.58039294T>C - 5.860 - MC4R_000004 MSCV_0000744 rs121913565 - ; clinVar; Ensembl; 12588803;12646665 - - - - - - - - - - - - - - - - - - - -
./. c.289A>G p.(Asn97Asp) - - - - r.(?) - Unknown - g.58039294T>C - - - MC4R_000004 MSCV_0000744 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.305T>G p.(Ile102Ser) missense_variant - 1/1 possibly_damaging(0.81) r.(?) deleterious(0.03) Unknown subst g.58039278A>C - 5.860 - MC4R_000003 MSCV_0000743 rs121913559 - ; clinVar; Ensembl; 11487744;16030156 - - - - - - - - - - - - - - - - - - - -
./. c.305T>G p.(Ile102Ser) - - - - r.(?) - Unknown - g.58039278A>C - - - MC4R_000003 MSCV_0000743 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.307G>A p.(Val103Ile) - - - - r.(?) - Unknown - g.58039276C>T - - - MC4R_000028 MSCV_0018537 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.380C>T p.(Ser127Leu) missense_variant - 1/1 probably_damaging(0.994) r.(?) tolerated(0.27) Unknown subst g.58039203G>A - 5.710 - MC4R_000002 MSCV_0000742 rs13447331 - ; clinVar; Ensembl; 14764818;12499395;12970296 - - - - - - - - - - - - - - - - - - - -
./. c.380C>T p.(Ser127Leu) - - - - r.(?) - Unknown - g.58039203G>A - - - MC4R_000002 MSCV_0000742 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.449C>T p.(Thr150Ile) - - - - r.(?) - Unknown - g.58039134G>A - - - MC4R_000027 MSCV_0018535 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.466C>T p.(Gln156*) - - - - r.(?) - Unknown - g.58039117G>A - - - MC4R_000045 - - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.494G>A p.(Arg165Gln) - - - - r.(?) - Unknown - g.58039089C>T - - - MC4R_000026 MSCV_0018534 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.496G>A p.(Val166Ile) - - - - r.(?) - Unknown - g.58039087C>T - - - MC4R_000044 - - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.508A>G p.(Ile170Val) missense_variant - 1/1 benign(0.084) r.(?) tolerated(0.08) Unknown subst g.58039075T>C - 3.370 - MC4R_000001 MSCV_0000741 rs121913560 - ; clinVar; Ensembl; 11487744 - - - - - - - - - - - - - - - - - - - -
./. c.508A>G p.(Ile170Val) - - - - r.(?) - Unknown - g.58039075T>C - - - MC4R_000001 MSCV_0000741 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.523G>A p.(Ala175Thr) missense_variant - 1/1 benign(0.068) r.(?) tolerated(1) Unknown subst g.58039060C>T - 4.970 - MC4R_000012 MSCV_0000740 rs121913563 - ; clinVar; Ensembl; 12646665;25333069 - - - - - - - - - - - - - - - - - - - -
./. c.523G>A p.(Ala175Thr) - - - - r.(?) - Unknown - g.58039060C>T - - - MC4R_000012 MSCV_0000740 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+?/+? c.538T>C p.(Ser180Pro) missense_variant - 1/1 possibly_damaging(0.637) r.(?) deleterious(0.05) Unknown subst g.58039045A>G - 4.670 - MC4R_000011 MSCV_0000739 rs193922685 - ; clinVar; Ensembl; - - - - - - - - - - - - - - - - - - - - -
./. c.538T>C p.(Ser180Pro) - - - - r.(?) - Unknown - g.58039045A>G - - - MC4R_000011 MSCV_0000739 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.594C>T p.(=) - - - - r.(=) - Unknown - g.58038989G>A - - - MC4R_000025 MSCV_0018530 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+?/+? c.606C>A p.(Phe202Leu) missense_variant - 1/1 benign(0.005) r.(?) tolerated(0.98) Unknown subst g.58038977G>T - 4.980 - MC4R_000010 MSCV_0000738 rs138281308 - ; clinVar; Ensembl; - - - - - - - - - - - - - - - - - - - - -
./. c.606C>A p.(Phe202Leu) - - - - r.(?) - Unknown - g.58038977G>T - - - MC4R_000010 MSCV_0000738 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.656C>T p.(Ala219Val) missense_variant - 1/1 probably_damaging(0.996) r.(?) deleterious(0) Unknown subst g.58038927G>A - 5.850 - MC4R_000016 MSCV_0000737 rs121913567 - ; clinVar; Ensembl; 15486053 - - - - - - - - - - - - - - - - - - - -
./. c.656C>T p.(Ala219Val) - - - - r.(?) - Unknown - g.58038927G>A - - - MC4R_000016 MSCV_0000737 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+?/+? c.677T>C p.(Ile226Thr) missense_variant - 1/1 probably_damaging(0.994) r.(?) deleterious(0.01) Unknown subst g.58038906A>G - 5.850 - MC4R_000015 MSCV_0000736 rs193922686 - ; clinVar; - - - - - - - - - - - - - - - - - - - - -
./. c.677T>C p.(Ile226Thr) - - - - r.(?) - Unknown - g.58038906A>G - - - MC4R_000015 MSCV_0000736 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.749T>A p.(Leu250Gln) - - - - r.(?) - Unknown - g.58038834A>T - - - MC4R_000046 - - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.751A>C p.(Ile251Leu) - - - - r.(?) - Unknown - g.58038832T>G - - - MC4R_000024 MSCV_0018526 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.757G>A p.(Val253Ile) - - - - r.(?) - Unknown - g.58038826C>T - - - MC4R_000023 MSCV_0018525 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.776C>T p.(Ala259Val) - - - - r.(?) - Unknown - g.58038807G>A - - - MC4R_000035 MSCV_0018524 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+?/+? c.806T>A p.(Ile269Asn) missense_variant - 1/1 probably_damaging(0.929) r.(?) deleterious(0) Unknown subst g.58038777A>T - 5.850 - MC4R_000014 MSCV_0000735 rs79783591 - ; clinVar; Ensembl; 18801902 - - - - - - - - - - - - - - - - - - - -
./. c.806T>A p.(Ile269Asn) - - - - r.(?) - Unknown - g.58038777A>T - - - MC4R_000014 MSCV_0000735 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.812G>A p.(Cys271Tyr) missense_variant - 1/1 probably_damaging(0.998) r.(?) deleterious(0) Unknown subst g.58038771C>T - 5.850 - MC4R_000013 MSCV_0000734 rs121913562 - ; clinVar; Ensembl; 12646665;12588803 - - - - - - - - - - - - - - - - - - - -
./. c.812G>A p.(Cys271Tyr) - - - - r.(?) - Unknown - g.58038771C>T - - - MC4R_000013 MSCV_0000734 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.821A>G p.(Asn274Ser) missense_variant - 1/1 probably_damaging(0.992) r.(?) tolerated(0.08) Unknown subst g.58038762T>C - 5.850 - MC4R_000019 MSCV_0000733 rs121913561 - ; clinVar; Ensembl; 11443223 - - - - - - - - - - - - - - - - - - - -
./. c.821A>G p.(Asn274Ser) - - - - r.(?) - Unknown - g.58038762T>C - - - MC4R_000019 MSCV_0000733 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.827A>G p.(Tyr276Cys) - - - - r.(?) - Unknown - g.58038756T>C - - - MC4R_000047 - - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.835_836insTG p.(Cys279Leufs*13) frameshift_variant - 1/1 - r.(?) - Unknown ins g.58038747_58038748insCA - - - MC4R_000018 MSCV_0000732 - - ; - - - - - - - - - - - - - - - - - - - - -
./. c.836_837insTG p.(Phe280Alafs*12) - - - - r.(?) - Unknown - g.58038746_58038747insCA - - - MC4R_000017 MSCV_0000731 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.836_837insTG p.(Phe280Alafs*12) - - - - r.(?) - Unknown ins g.58038746_58038747insCA - - - MC4R_000017 MSCV_0000731 rs193922687 - ; clinVar; Ensembl; 12646665;18801902 - - - - - - - - - - - - - - - - - - - -
./. c.838T>C p.(Phe280Leu) - - - - r.(?) - Unknown - g.58038745A>G - - - MC4R_000034 MSCV_0018519 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.861T>A p.(Tyr287*) stop_gained - 1/1 - r.(?) - Unknown subst g.58038722A>T - -1.830 - MC4R_000022 MSCV_0000730 rs121917829 - ; clinVar; Ensembl; 12646665;12588803 - - - - - - - - - - - - - - - - - - - -
./. c.861T>A p.(Tyr287*) - - - - r.(?) - Unknown - g.58038722A>T - - - MC4R_000022 MSCV_0000730 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.896C>A p.(Pro299His) missense_variant - 1/1 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.58038687G>T - 6.060 - MC4R_000021 MSCV_0000729 rs52804924 - ; clinVar; Ensembl; 17357083;18559663;18801902 - - - - - - - - - - - - - - - - - - - -
./. c.896C>A p.(Pro299His) - - - - r.(?) - Unknown - g.58038687G>T - - - MC4R_000021 MSCV_0000729 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.914G>A p.(Arg305Gln) - - - - r.(?) - Unknown - g.58038669C>T - - - MC4R_000043 MSCV_0018516 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
+/+ c.947T>G p.(Ile316Ser) missense_variant - 1/1 benign(0.343) r.(?) deleterious(0) Unknown subst g.58038636A>C - 6.060 - MC4R_000020 MSCV_0000728 rs121913564 - ; clinVar; Ensembl; 12588803;12646665 - - - - - - - - - - - - - - - - - - - -
./. c.947T>G p.(Ile316Ser) - - - - r.(?) - Unknown - g.58038636A>C - - - MC4R_000020 MSCV_0000728 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
Legend