rs373145711
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | Bohring-Opitz syndrome |
| Make rs373145711(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 32433408 |
| Gene | ASXL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373145711 |
| dbSNP (classic) | rs373145711 |
| ClinGen | rs373145711 |
| ebi | rs373145711 |
| HLI | rs373145711 |
| Exac | rs373145711 |
| Gnomad | rs373145711 |
| Varsome | rs373145711 |
| LitVar | rs373145711 |
| Map | rs373145711 |
| PheGenI | rs373145711 |
| Biobank | rs373145711 |
| 1000 genomes | rs373145711 |
| hgdp | rs373145711 |
| ensembl | rs373145711 |
| geneview | rs373145711 |
| scholar | rs373145711 |
| rs373145711 | |
| pharmgkb | rs373145711 |
| gwascentral | rs373145711 |
| openSNP | rs373145711 |
| 23andMe | rs373145711 |
| SNPshot | rs373145711 |
| SNPdbe | rs373145711 |
| MSV3d | rs373145711 |
| GWAS Ctlg | rs373145711 |
| Max Magnitude | 8 |
rs373145711, also known as c.1210C>T, p.Arg404Ter, R404X, represents a rare mutation in the ASXL1 gene on chromosome 20.
Considered an autosomal dominant mutation leading to Bohring-Opitz syndrome, the minor allele has been seen in apparently normal individuals in the ExAC (exome) database. This has been explained as a case of somatic mosaicism, prompting researchers to worry that similar cases of somatic mosaicism may lead to the inaccurate assumption that conditions like Bohring-Opitz syndrome have reduced penetrance, or the misclassification of potentially pathogenic variants.[PMID 28229513
]
| ClinVar | |
|---|---|
| Risk | rs373145711(T;T) |
| Alt | rs373145711(T;T) |
| Reference | Rs373145711(C;C) |
| Significance | Pathogenic |
| Disease | C-like syndrome Abnormality of the corpus callosum Delayed gross motor development Delayed speech and language development Feeding difficulties Glabellar hemangioma Global developmental delay Hypertrichosis Intellectual disability Prominent metopic ridge Small for gestational age Developmental delay dystrophia |
| Variation | info |
| Gene | ASXL1 |
| CLNDBN | C-like syndrome Abnormality of the corpus callosum Delayed gross motor development Delayed speech and language development Feeding difficulties Glabellar hemangioma Global developmental delay Hypertrichosis Intellectual disability, severe Prominent metopic ridge Small for gestational age Developmental delay dystrophia |
| Reversed | 0 |
| HGVS | NC_000020.10:g.31021211C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023977.2, RCV000414833.1, RCV000415151.1, |
