Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K|MAF: < 0.01 (G)
Location

Chromosome 5:132392510 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051225

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2767 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays