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rs367543046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AAA) 3 Carrier of a fumarase deficiency mutation
(AAA;AAA) 8.8 Fumarase deficiency (predicted)
ReferenceGRCh38 38.1/141
Chromosome1
Position241497927
GeneFH
is asnp
is mentioned by
dbSNPrs367543046
dbSNP (old)rs367543046
ClinGenrs367543046
ebirs367543046
HLIrs367543046
Exacrs367543046
Gnomadrs367543046
Varsomers367543046
Maprs367543046
PheGenIrs367543046
Biobankrs367543046
1000 genomesrs367543046
hgdprs367543046
ensemblrs367543046
gopubmedrs367543046
geneviewrs367543046
scholarrs367543046
googlers367543046
pharmgkbrs367543046
gwascentralrs367543046
openSNPrs367543046
23andMers367543046
23andMe allrs367543046
SNP Nexus

SNPshotrs367543046
SNPdbers367543046
MSV3drs367543046
GWAS Ctlgrs367543046
Max Magnitude8.8

Known as c.1431_1433dupAAA or p.Lys477dup, or due to earlier numbering differences also as 1302insAAA, 435insAAA, 435insK, 1433insAAA, and insK477, this insertion mutation in the FH gene on chromosome 1 is reported to be the most frequently mutation associated with fumarase deficiency, a very rare, primarily recessively inherited disorder.[PMID 20301679OA-icon.png]


ClinVar
Risk Rs367543046(AAA;AAA)
Alt Rs367543046(AAA;AAA)
Reference Rs367543046(-;-)
Significance Other
Disease not provided Fumarase deficiency Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN not provided Fumarase deficiency Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.241661228_241661230dupTTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034483.2, RCV000034921.2, RCV000164180.3,