Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 1:173914845 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM890014

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 355

HGVS names

This variant has 9 HGVS names - Hide

1:g.173914845A>T
ENST00000494024.1:n.342T>A
ENST00000367698.3:c.116T>A
ENSP00000356671.3:p.Ile39Asn
ENST00000617423.4:c.116T>A
ENSP00000478688.1:p.Ile39Asn
LRG_577:g.7534T>A
LRG_577t1:c.116T>A
LRG_577p1:p.Ile39Asn

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays