Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 11:17387943 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM061826, CM050280

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele T
11:g.17387943C>T
ENST00000526912.1:c.-17+75G>A
ENST00000528992.1:c.166G>A
ENSP00000436479.1:p.Arg56Gln
ENST00000528731.1:c.-16-97G>A
ENST00000339994.4:c.149G>A
ENSP00000345708.4:p.Arg50Gln

Variant allele G
11:g.17387943C>G
ENST00000526912.1:c.-17+75G>C
ENST00000528992.1:c.166G>C
ENSP00000436479.1:p.Arg56Pro
ENST00000528731.1:c.-16-97G>C
ENST00000339994.4:c.149G>C
ENSP00000345708.4:p.Arg50Pro

About this variant

This variant overlaps 20 transcripts, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays