Transcript #00003115

Transcript name melanocortin 4 receptor
Gene name MC4R (melanocortin 4 receptor)
Chromosome 18
Transcript - NCBI ID NM_005912.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005903.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
./. c.-386G>A p.(=) - - - - r.(=) -
./. c.-375G>T p.(=) - - - - r.(=) -
./. c.-220G>A p.(=) - - - - r.(=) -
./. c.-178A>C p.(=) - - - - r.(=) -
./. c.-161C>T p.(=) - - - - r.(=) -
./. c.-66C>T p.(=) - - - - r.(=) -
./. c.-60C>G p.(=) - - - - r.(=) -
./. c.-18T>C p.(=) - - - - r.(=) -
./. c.63_64del p.(Tyr21*) - - - - r.(?) -
+/+ c.105C>A p.(Tyr35*) stop_gained - 1/1 - r.(?) -
./. c.105C>A p.(Tyr35*) - - - - r.(?) -
./. c.110A>T p.(Asp37Val) - - - - r.(?) -
+/+ c.110A>T p.(Asp37Val) missense_variant - 1/1 benign(0.01) r.(?) tolerated(0.17)
+/+ c.148G>A p.(Val50Met) missense_variant - 1/1 probably_damaging(0.994) r.(?) deleterious(0.02)
./. c.148G>A p.(Val50Met) - - - - r.(?) -
./. c.161T>C p.(Leu54Pro) - - - - r.(?) -
./. c.172A>T p.(Ser58Cys) - - - - r.(?) -
+/+ c.172A>T p.(Ser58Cys) missense_variant - 1/1 probably_damaging(0.993) r.(?) deleterious(0)
./. c.181G>A p.(Glu61Lys) - - - - r.(?) -
./. c.185A>G p.(Asn62Ser) - - - - r.(?) -
+/+ c.185A>G p.(Asn62Ser) missense_variant - 1/1 probably_damaging(0.992) r.(?) deleterious(0)
./. c.201G>A p.(=) - - - - r.(=) -
+/+ c.289A>G p.(Asn97Asp) missense_variant - 1/1 probably_damaging(0.995) r.(?) deleterious(0.02)
./. c.289A>G p.(Asn97Asp) - - - - r.(?) -
+/+ c.305T>G p.(Ile102Ser) missense_variant - 1/1 possibly_damaging(0.81) r.(?) deleterious(0.03)
./. c.305T>G p.(Ile102Ser) - - - - r.(?) -
./. c.307G>A p.(Val103Ile) - - - - r.(?) -
+/+ c.380C>T p.(Ser127Leu) missense_variant - 1/1 probably_damaging(0.994) r.(?) tolerated(0.27)
./. c.380C>T p.(Ser127Leu) - - - - r.(?) -
./. c.449C>T p.(Thr150Ile) - - - - r.(?) -
./. c.466C>T p.(Gln156*) - - - - r.(?) -
./. c.494G>A p.(Arg165Gln) - - - - r.(?) -
./. c.496G>A p.(Val166Ile) - - - - r.(?) -
./. c.508A>G p.(Ile170Val) - - - - r.(?) -
+/+ c.508A>G p.(Ile170Val) missense_variant - 1/1 benign(0.084) r.(?) tolerated(0.08)
./. c.523G>A p.(Ala175Thr) - - - - r.(?) -
+/+ c.523G>A p.(Ala175Thr) missense_variant - 1/1 benign(0.068) r.(?) tolerated(1)
./. c.538T>C p.(Ser180Pro) - - - - r.(?) -
+?/+? c.538T>C p.(Ser180Pro) missense_variant - 1/1 possibly_damaging(0.637) r.(?) deleterious(0.05)
./. c.594C>T p.(=) - - - - r.(=) -
+?/+? c.606C>A p.(Phe202Leu) missense_variant - 1/1 benign(0.005) r.(?) tolerated(0.98)
./. c.606C>A p.(Phe202Leu) - - - - r.(?) -
+/+ c.656C>T p.(Ala219Val) missense_variant - 1/1 probably_damaging(0.996) r.(?) deleterious(0)
./. c.656C>T p.(Ala219Val) - - - - r.(?) -
+?/+? c.677T>C p.(Ile226Thr) missense_variant - 1/1 probably_damaging(0.994) r.(?) deleterious(0.01)
./. c.677T>C p.(Ile226Thr) - - - - r.(?) -
./. c.749T>A p.(Leu250Gln) - - - - r.(?) -
./. c.751A>C p.(Ile251Leu) - - - - r.(?) -
./. c.757G>A p.(Val253Ile) - - - - r.(?) -
./. c.776C>T p.(Ala259Val) - - - - r.(?) -
+?/+? c.806T>A p.(Ile269Asn) missense_variant - 1/1 probably_damaging(0.929) r.(?) deleterious(0)
./. c.806T>A p.(Ile269Asn) - - - - r.(?) -
+/+ c.812G>A p.(Cys271Tyr) missense_variant - 1/1 probably_damaging(0.998) r.(?) deleterious(0)
./. c.812G>A p.(Cys271Tyr) - - - - r.(?) -
+/+ c.821A>G p.(Asn274Ser) missense_variant - 1/1 probably_damaging(0.992) r.(?) tolerated(0.08)
./. c.821A>G p.(Asn274Ser) - - - - r.(?) -
./. c.827A>G p.(Tyr276Cys) - - - - r.(?) -
./. c.835_836insTG p.(Cys279Leufs*13) frameshift_variant - 1/1 - r.(?) -
./. c.836_837insTG p.(Phe280Alafs*12) - - - - r.(?) -
+/+ c.836_837insTG p.(Phe280Alafs*12) - - - - r.(?) -
./. c.838T>C p.(Phe280Leu) - - - - r.(?) -
./. c.861T>A p.(Tyr287*) - - - - r.(?) -
+/+ c.861T>A p.(Tyr287*) stop_gained - 1/1 - r.(?) -
+/+ c.896C>A p.(Pro299His) missense_variant - 1/1 probably_damaging(1) r.(?) deleterious(0)
./. c.896C>A p.(Pro299His) - - - - r.(?) -
./. c.914G>A p.(Arg305Gln) - - - - r.(?) -
+/+ c.947T>G p.(Ile316Ser) missense_variant - 1/1 benign(0.343) r.(?) deleterious(0)
./. c.947T>G p.(Ile316Ser) - - - - r.(?) -
Legend