Original source

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

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

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

Co-located

with HGMD-PUBLIC CM960016

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

This variant has 15 HGVS names - click the plus to show

About this variant

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

Variant displays