Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)

Chromosome 1:16988161 (forward strand) | View in location tab


with HGMD-PUBLIC CM098012

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays