Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 12:57764147 (forward strand) | View in location tab


with HGMD-PUBLIC CM980512

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays