Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:4901071 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM024237

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

17:g.4901071G>A
ENST00000575637.1:n.495C>T
ENST00000572438.1:n.407C>T
ENST00000293780.4:c.721C>T
ENSP00000293780.4:p.Leu241Phe
ENST00000381365.3:c.*538G>A

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays