rs367543046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AAA) | 3 | Carrier of a fumarase deficiency mutation |
(AAA;AAA) | 8.8 | Fumarase deficiency (predicted) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 241497927 |
Gene | FH |
is a | snp |
is | mentioned by |
dbSNP | rs367543046 |
dbSNP (classic) | rs367543046 |
ClinGen | rs367543046 |
ebi | rs367543046 |
HLI | rs367543046 |
Exac | rs367543046 |
Gnomad | rs367543046 |
Varsome | rs367543046 |
LitVar | rs367543046 |
Map | rs367543046 |
PheGenI | rs367543046 |
Biobank | rs367543046 |
1000 genomes | rs367543046 |
hgdp | rs367543046 |
ensembl | rs367543046 |
geneview | rs367543046 |
scholar | rs367543046 |
rs367543046 | |
pharmgkb | rs367543046 |
gwascentral | rs367543046 |
openSNP | rs367543046 |
23andMe | rs367543046 |
SNPshot | rs367543046 |
SNPdbe | rs367543046 |
MSV3d | rs367543046 |
GWAS Ctlg | rs367543046 |
Max Magnitude | 8.8 |
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 20301679]
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, |