Original source

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

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

Chromosome 3:46373205 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980312

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

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 3 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays