Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM890014

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 355

This variant has 6 HGVS names - click the plus to show

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

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays