Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: 0.29 (A)
Location

Chromosome 12:40320099 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM104616

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

12:g.40320099T>A
ENST00000479187.4:n.1620T>A
ENST00000298910.10:c.4939T>A
ENSP00000298910.7:p.Ser1647Thr
ENST00000430804.4:c.*1612T>A

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 3119 individual genotypes, is associated with 1 phenotype and is mentioned in 12 citations.

Variation displays