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rs373145711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 Bohring-Opitz syndrome
Make rs373145711(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position32433408
GeneASXL1
is asnp
is mentioned by
dbSNPrs373145711
dbSNP (classic)rs373145711
ClinGenrs373145711
ebirs373145711
HLIrs373145711
Exacrs373145711
Gnomadrs373145711
Varsomers373145711
LitVarrs373145711
Maprs373145711
PheGenIrs373145711
Biobankrs373145711
1000 genomesrs373145711
hgdprs373145711
ensemblrs373145711
geneviewrs373145711
scholarrs373145711
googlers373145711
pharmgkbrs373145711
gwascentralrs373145711
openSNPrs373145711
23andMers373145711
SNPshotrs373145711
SNPdbers373145711
MSV3drs373145711
GWAS Ctlgrs373145711
Max Magnitude8

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 28229513OA-icon.png]

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,