Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (A)

Chromosome 1:17033078 (forward strand) | View in location tab


with HGMD-PUBLIC CM012800

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 6 citations.

Variant displays