Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 17:4899509 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970309

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
17:g.4899509G>A
ENST00000521575.1:c.-254G>A
ENST00000572438.1:n.677C>T
ENST00000293780.4:c.991C>T
ENSP00000293780.4:p.Arg331Trp

Variant allele T
17:g.4899509G>T
ENST00000521575.1:c.-254G>T
ENST00000572438.1:n.677C>A
ENST00000293780.4:c.991C>A
ENST00000293780.4:c.991C>A(p.=)

About this variant

This variant overlaps 28 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays