Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 13:27924341 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM035997

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

13:g.27924341G>T
ENST00000381033.4:c.492G>T
ENSP00000370421.4:p.Glu164Asp

About this variant

This variant overlaps 3 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays