Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 10:71732151 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010180

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13249

This variant has 11 HGVS names - click the plus to show

10:g.71732151C>T
ENST00000398786.2:c.-6+5577G>A
ENST00000616684.4:c.4015C>T
ENSP00000482036.1:p.Gln1339Ter
ENST00000398809.8:c.3877C>T
ENSP00000381789.5:p.Gln1293Ter
ENST00000622827.4:c.3880C>T
ENSP00000483211.1:p.Gln1294Ter
ENST00000224721.10:c.4030C>T
ENSP00000224721.7:p.Gln1344Ter
ENST00000398792.3:n.572C>T

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays