rs587776596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a microphthalmia mutation |
(D;D) | If from Ancestry DNA, likely to be a miscall | |
(D;I) | If from Ancestry DNA, likely to be a miscall | |
(G;G) | 0 | common in clinvar |
Make rs587776596(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 119345563 |
Gene | C1QTNF5, MFRP |
is a | snp |
is | mentioned by |
dbSNP | rs587776596 |
dbSNP (classic) | rs587776596 |
ClinGen | rs587776596 |
ebi | rs587776596 |
HLI | rs587776596 |
Exac | rs587776596 |
Gnomad | rs587776596 |
Varsome | rs587776596 |
LitVar | rs587776596 |
Map | rs587776596 |
PheGenI | rs587776596 |
Biobank | rs587776596 |
1000 genomes | rs587776596 |
hgdp | rs587776596 |
ensembl | rs587776596 |
geneview | rs587776596 |
scholar | rs587776596 |
rs587776596 | |
pharmgkb | rs587776596 |
gwascentral | rs587776596 |
openSNP | rs587776596 |
23andMe | rs587776596 |
SNPshot | rs587776596 |
SNPdbe | rs587776596 |
MSV3d | rs587776596 |
GWAS Ctlg | rs587776596 |
Max Magnitude | 3 |
rs587776596, also known as c.498delC and p.Asn167Thrfs, represents a very rare mutation in the MFRP/C1QTNF5 gene on chromosome 11. The minor allele frequency is perhaps 1 in 10,000, and it is reported to be pathogenic for autosomally recessively inherited microphthalmia in ClinVar and OMIM.
Note that this variant appears to be miscalled often on Ancestry v2 chips.
ClinVar | |
---|---|
Risk | rs587776596(-;-) |
Alt | rs587776596(-;-) |
Reference | Rs587776596(G;G) |
Significance | Pathogenic |
Disease | Nanophthalmos 2 Microphthalmia |
Variation | info |
Gene | MFRP C1QTNF5 |
CLNDBN | Nanophthalmos 2 Microphthalmia, isolated 5 |
Reversed | 0 |
HGVS | NC_000011.9:g.119216273delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004733.6, RCV000161911.5, |