Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:17387934 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM045416, CM102333

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

11:g.17387934C>T
ENST00000526912.1:c.-17+84G>A
ENST00000528992.1:c.175G>A
ENSP00000436479.1:p.Gly59Asp
ENST00000528731.1:c.-16-88G>A
ENST00000339994.4:c.158G>A
ENSP00000345708.4:p.Gly53Asp

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays