This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N
Location

Chromosome 11:17387595 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061828, CM056351

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 8 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

Variant allele A
11:g.17387595C>A
ENST00000526912.1:c.236G>T
ENSP00000432729.1:p.Cys79Phe
ENST00000528731.1:c.236G>T
ENSP00000434755.1:p.Cys79Phe
ENST00000339994.4:c.497G>T
ENSP00000345708.4:p.Cys166Phe

Variant allele T
11:g.17387595C>T
ENST00000526912.1:c.236G>A
ENSP00000432729.1:p.Cys79Tyr
ENST00000528731.1:c.236G>A
ENSP00000434755.1:p.Cys79Tyr
ENST00000339994.4:c.497G>A
ENSP00000345708.4:p.Cys166Tyr

Variant allele G
11:g.17387595C>G
ENST00000526912.1:c.236G>C
ENSP00000432729.1:p.Cys79Ser
ENST00000528731.1:c.236G>C
ENSP00000434755.1:p.Cys79Ser
ENST00000339994.4:c.497G>C
ENSP00000345708.4:p.Cys166Ser

About this variant

This variant overlaps 18 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays