View all transcript variants in 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     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium