Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 17:43124095 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM014520, CM041678

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB U14680.1:c.2T>G, U14680.1:c.2T>C

HGVS names

This variant has 88 HGVS names - Show

About this variant

This variant overlaps 54 transcripts and is associated with 4 phenotypes.

Variant displays