Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:99881329 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960016

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16865, NM_000642.2:c.2039G>A

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays