Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 11:17387582 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050282

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.17387582C>G
ENST00000526912.1:c.249G>C
ENSP00000432729.1:p.Lys83Asn
ENST00000528731.1:c.249G>C
ENSP00000434755.1:p.Lys83Asn
ENST00000339994.4:c.510G>C
ENSP00000345708.4:p.Lys170Asn

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays