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 11:17387935 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050651, CM050650

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 11 synonyms - click the plus to show

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

Variant allele A
11:g.17387935C>A
ENST00000526912.1:c.-17+83G>T
ENST00000528992.1:c.174G>T
ENSP00000436479.1:p.Gly59Cys
ENST00000528731.1:c.-16-89G>T
ENST00000339994.4:c.157G>T
ENSP00000345708.4:p.Gly53Cys

Variant allele T
11:g.17387935C>T
ENST00000526912.1:c.-17+83G>A
ENST00000528992.1:c.174G>A
ENSP00000436479.1:p.Gly59Ser
ENST00000528731.1:c.-16-89G>A
ENST00000339994.4:c.157G>A
ENSP00000345708.4:p.Gly53Ser

Variant allele G
11:g.17387935C>G
ENST00000526912.1:c.-17+83G>C
ENST00000528992.1:c.174G>C
ENSP00000436479.1:p.Gly59Arg
ENST00000528731.1:c.-16-89G>C
ENST00000339994.4:c.157G>C
ENSP00000345708.4:p.Gly53Arg

About this variant

This variant overlaps 30 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays