Original source

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

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

Chromosome 11:17387652 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960894

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

11:g.17387652A>G
ENST00000526912.1:c.179T>C
ENSP00000432729.1:p.Leu60Pro
ENST00000528992.1:c.457T>C
ENSP00000436479.1:p.Leu153Pro
ENST00000528731.1:c.179T>C
ENSP00000434755.1:p.Leu60Pro
ENST00000339994.4:c.440T>C
ENSP00000345708.4:p.Leu147Pro

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays