This variant has been flagged

Variation has more than 3 different alleles

Original source

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

G/A/C/T | Ancestral: G | Ambiguity code: N

Chromosome 1:154571682 (forward strand) | View in location tab


with HGMD-PUBLIC CM002752, CM010187

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

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

Variant displays