Original source

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

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

Chromosome 11:17387917 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040762

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

11:g.17387917C>T
ENST00000528992.1:c.192G>A
ENSP00000436479.1:p.Val65Met
ENST00000526912.1:c.-16-71G>A
ENST00000528731.1:c.-16-71G>A
ENST00000339994.4:c.175G>A
ENSP00000345708.4:p.Val59Met

About this variant

This variant overlaps 10 transcripts, is associated with 4 phenotypes and is mentioned in 5 citations.

Variant displays