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

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

Chromosome 13:51946337 (forward strand) | View in location tab


with HGMD-PUBLIC CM980180

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 42 HGVS names - Show

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays