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 | MAF: < 0.01 (A)

Chromosome 1:11022290 (forward strand) | View in location tab


with HGMD-PUBLIC CM081449, CM091849

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 75 HGVS names - Show

About this variant

This variant overlaps 105 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays