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 11:17387490 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055966, CM040764

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.17387490C>A
ENST00000526912.1:c.341G>T
ENSP00000432729.1:p.Arg114Leu
ENST00000528731.1:c.341G>T
ENSP00000434755.1:p.Arg114Leu
ENST00000339994.4:c.602G>T
ENSP00000345708.4:p.Arg201Leu

Variant allele T
11:g.17387490C>T
ENST00000526912.1:c.341G>A
ENSP00000432729.1:p.Arg114His
ENST00000528731.1:c.341G>A
ENSP00000434755.1:p.Arg114His
ENST00000339994.4:c.602G>A
ENSP00000345708.4:p.Arg201His

Variant allele G
11:g.17387490C>G
ENST00000526912.1:c.341G>C
ENSP00000432729.1:p.Arg114Pro
ENST00000528731.1:c.341G>C
ENSP00000434755.1:p.Arg114Pro
ENST00000339994.4:c.602G>C
ENSP00000345708.4:p.Arg201Pro

About this variant

This variant overlaps 18 transcripts, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays