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 11:17396980 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM042667, CM981882

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Hide

Variant allele T
11:g.17396980C>T
ENST00000389817.7:c.4055G>A
ENSP00000374467.3:p.Arg1352His
ENST00000531137.1:n.620G>A
ENST00000528374.1:c.537G>A
ENSP00000433638.1:p.Arg180His
ENST00000527905.5:c.*1077G>A
ENST00000532220.1:n.529G>A
ENST00000531891.1:c.*232G>A
ENST00000302539.8:c.4058G>A
ENSP00000303960.4:p.Arg1353His

Variant allele G
11:g.17396980C>G
ENST00000389817.7:c.4055G>C
ENSP00000374467.3:p.Arg1352Pro
ENST00000531137.1:n.620G>C
ENST00000528374.1:c.537G>C
ENSP00000433638.1:p.Arg180Pro
ENST00000527905.5:c.*1077G>C
ENST00000532220.1:n.529G>C
ENST00000531891.1:c.*232G>C
ENST00000302539.8:c.4058G>C
ENSP00000303960.4:p.Arg1353Pro

About this variant

This variant overlaps 22 transcripts and is associated with 5 phenotypes.

Variant displays