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rs137854448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8.2 Maybe: Severe congenital neutropenia, type 1, autosomal dominant; see discussion
Make rs137854448(T;T)
ReferenceGRCh37.p5 37.3/135
Chromosome19
Position855613
GeneELANE
is asnp
is mentioned by
dbSNPrs137854448
dbSNP (old)rs137854448
ClinGenrs137854448
ebirs137854448
HLIrs137854448
Exacrs137854448
Varsomers137854448
Maprs137854448
PheGenIrs137854448
Biobankrs137854448
1000 genomesrs137854448
hgdprs137854448
ensemblrs137854448
gopubmedrs137854448
geneviewrs137854448
scholarrs137854448
googlers137854448
pharmgkbrs137854448
gwascentralrs137854448
openSNPrs137854448
23andMers137854448
23andMe allrs137854448
SNP Nexus

SNPshotrs137854448
SNPdbers137854448
MSV3drs137854448
GWAS Ctlgrs137854448
Merged fromRs28929493
Max Magnitude8.2

rs137854448, also known as c.416C>T, p.Pro139Leu and P139L, represents a rare variant in the ELANE gene on chromosome 19.

The rs137854448(T) variant is reported in ClinVar by a single submitter to be a dominant mutation leading to severe congenital neutropenia, type 1. However, we (SNPedia) are aware of at least one Promethease user with 23andMe-based data indicating they carry this mutation yet who does not show any signs of having any form of neutropenia. Therefore, at this time it is unclear if this variant really is disease-causing, or, if 23andMe may be prone to mistyping this genotype.

23andMe name: i3002703

OMIM130130
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854448(T;T)
Alt rs137854448(T;T)
Reference Rs137854448(C;C)
Significance Pathogenic
Disease Severe congenital neutropenia autosomal dominant not provided
Variation info
Gene ELANE
CLNDBN Severe congenital neutropenia autosomal dominant not provided
Reversed 0
HGVS NC_000019.9:g.855613C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018227.28, RCV000220001.1,