rs121434280

plus

Geno	Mag	Summary
(C;C)	5	Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(C;T)	3	Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

75732724

Gene

ACADM

is a	snp
is	mentioned by
dbSNP	rs121434280
dbSNP (classic)	rs121434280
ClinGen	rs121434280
ebi	rs121434280
HLI	rs121434280
Exac	rs121434280
Gnomad	rs121434280
Varsome	rs121434280
LitVar	rs121434280
Map	rs121434280
PheGenI	rs121434280
Biobank	rs121434280
1000 genomes	rs121434280
hgdp	rs121434280
ensembl	rs121434280
geneview	rs121434280
scholar	rs121434280
google	rs121434280
pharmgkb	rs121434280
gwascentral	rs121434280
openSNP	rs121434280
23andMe	rs121434280
SNPshot	rs121434280
SNPdbe	rs121434280
MSV3d	rs121434280
GWAS Ctlg	rs121434280

Max Magnitude

5

aka c.199T>C, p.Tyr67His), Y67H (and in older literature, Y42H or Tyr42His)

According to a paper cited in OMIM, the Y42H mutation is relatively mild as ACADM mutations go, and may be a temperature-sensitive mutation, which its most deleterious effects only at increased temperatures.

OMIM	607008
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121434280(C;C)
Alt	Rs121434280(C;C)
Reference	Rs121434280(T;T)
Significance	Pathogenic
Disease	Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Variation	info
Gene	ACADM
CLNDBN	Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000001.10:g.76198409T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003780.2, RCV000185668.2,