Full data view for gene ACADM

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 3/12 c.211T>C p.(Tyr71His) benign(0.055) missense_variant - tolerated(0.31) Unknown subst g.76198409T>C - 4.450 - ACADM_000012 rs121434280 - ; clinvar; 18241067;11409868;11349232;15479234 - - - - - - - - - - - - - - - - - - -
+/+ - 5/12 c.374C>T p.(Thr125Ile) possibly_damaging(0.454) missense_variant - deleterious(0.03) Unknown subst g.76199288C>T - 5.690 - ACADM_000001 rs121434283 - ; clinvar; 11349232;17273963 - - - - - - - - - - - - - - - - - - -
+/+ - 6/12 c.459G>A p.(Met153Ile) benign(0.013) missense_variant - deleterious(0.05) Unknown subst g.76200535G>A - 5.630 - ACADM_000002 rs121434277 - ; clinvar; 1684086 - - - - - - - - - - - - - - - - - - -
+/+ - 7/12 c.589A>G p.(Thr197Ala) probably_damaging(0.966) missense_variant - deleterious(0) Unknown subst g.76205773A>G - 5.460 - ACADM_000003 rs121434279 - ; clinvar; 9158144;9882619 - - - - - - - - - - - - - - - - - - -
+/+ - 7/12 c.595G>A p.(Gly199Arg) probably_damaging(0.997) missense_variant - deleterious(0) Unknown subst g.76205779G>A - 5.460 - ACADM_000004 rs121434278 - ; clinvar; 23757202;7929823;18241067 - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.742T>C p.(Cys248Arg) probably_damaging(0.997) missense_variant - deleterious(0) Unknown subst g.76215125T>C - 5.860 - ACADM_000005 rs121434276 - ; clinvar; 1684086 - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.746C>T p.(Ser249Leu) probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.76215129C>T - 5.860 - ACADM_000006 rs121434281 - ; clinvar; 11409868;23757202 - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.811G>A p.(Gly271Arg) probably_damaging(0.99) missense_variant - deleterious(0) Unknown subst g.76215194G>A - 5.730 - ACADM_000007 rs121434274 - ; clinvar; 1684086 - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.854G>C p.(Arg285Thr) probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.76215237G>C - 5.730 - ACADM_000008 rs121434282 - ; clinvar; 11486912 - - - - - - - - - - - - - - - - - - -
./. - - c.997A>G p.(Lys333Glu) - - - - Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; clinvar; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - - - - - - - - - - - - - - - - - -
./. - 11/12 c.997A>G p.(Lys333Glu) benign(0.164) missense_variant - tolerated(0.31) Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; ensembl; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - - - - - - - - - - - - - - - - - -
+/+ - - c.1114_1117del p.(Ala373Leufs*18) - - - - Unknown del g.76226963_76226966del - - - ACADM_000010 rs387906297 - ; clinvar; 1729890;1356169;23757202 - - - - - - - - - - - - - - - - - - -
+/+ - 11/12 c.1136T>C p.(Ile379Thr) probably_damaging(0.996) missense_variant - deleterious(0) Unknown subst g.76226985T>C - 5.210 - ACADM_000011 rs121434275 - ; clinvar; 1684086 - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium