Original source

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

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

Chromosome 7:114642616 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051480

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13112

HGVS names

This variant has 35 HGVS names - Hide

7:g.114642616C>T
ENST00000378237.7:c.982C>T
ENSP00000367482.3:p.Arg328Ter
ENST00000635534.1:c.973C>T
ENSP00000489229.1:p.Arg325Ter
ENST00000634372.1:n.222-9587C>T
ENST00000634411.1:c.931C>T
ENSP00000489135.1:p.Arg311Ter
ENST00000635638.1:c.985C>T
ENSP00000489073.1:p.Arg329Ter
ENST00000393498.6:c.919C>T
ENSP00000377135.2:p.Arg307Ter
ENST00000403559.8:c.1033C>T
ENSP00000385069.4:p.Arg345Ter
ENST00000393491.7:c.706C>T
ENSP00000377130.3:p.Arg236Ter
ENST00000360232.8:c.982C>T
ENSP00000353367.4:p.Arg328Ter
ENST00000635563.1:c.522C>T
ENSP00000488954.1:p.Arg175Ter
ENST00000441290.6:c.*827C>T
ENST00000393489.7:c.706C>T
ENSP00000377129.3:p.Arg236Ter
ENST00000408937.7:c.1057C>T
ENSP00000386200.3:p.Arg353Ter
ENST00000412402.5:c.*902C>T
ENST00000634623.1:c.922C>T
ENSP00000488944.1:p.Arg308Ter
ENST00000390668.3:c.1054C>T
ENSP00000375084.3:p.Arg352Ter
ENST00000350908.8:c.982C>T
ENSP00000265436.7:p.Arg328Ter
ENST00000393494.6:c.982C>T
ENSP00000377132.2:p.Arg328Ter
ENST00000635109.1:c.*779C>T

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays