rs137854448

plus

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)

Reference

GRCh37.p5 37.3/135

Chromosome

19

Position

855613

Gene

ELANE

is a	snp
is	mentioned by
dbSNP	rs137854448
dbSNP (classic)	rs137854448
ClinGen	rs137854448
ebi	rs137854448
HLI	rs137854448
Exac	rs137854448
Gnomad	rs137854448
Varsome	rs137854448
LitVar	rs137854448
Map	rs137854448
PheGenI	rs137854448
Biobank	rs137854448
1000 genomes	rs137854448
hgdp	rs137854448
ensembl	rs137854448
geneview	rs137854448
scholar	rs137854448
google	rs137854448
pharmgkb	rs137854448
gwascentral	rs137854448
openSNP	rs137854448
23andMe	rs137854448
SNPshot	rs137854448
SNPdbe	rs137854448
MSV3d	rs137854448
GWAS Ctlg	rs137854448

Merged from

Rs28929493

Max Magnitude

8.2

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 now been informed by several Promethease users with 23andMe-based data indicating they carry this mutation, yet, who have no any signs or history of 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

OMIM	130130
Desc
Variant	0006
Related	also

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,