Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 8:133258374 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001817 ; PhenCode IPNMDB_436 (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_001135242.1:c.442C>T, 13060

This variant has 29 HGVS names - click the plus to show

8:g.133258374G>A
ENST00000414097.6:c.442C>T
ENSP00000404854.2:p.Arg148Ter
ENST00000517331.5:n.160C>T
ENST00000517599.5:c.*48C>T
ENST00000323851.11:c.442C>T
ENSP00000319977.7:p.Arg148Ter
ENST00000520230.5:c.493C>T
ENSP00000428345.1:p.Arg165Ter
ENST00000519228.5:c.442C>T
ENSP00000429994.1:p.Arg148Ter
ENST00000518066.5:c.37-16318C>T
ENST00000518010.5:n.526+794C>T
ENST00000537882.2:c.199C>T
ENSP00000437443.1:p.Arg67Ter
ENST00000522476.5:c.244C>T
ENSP00000427894.1:p.Arg82Ter
ENST00000522890.5:c.442C>T
ENSP00000428384.1:p.Arg148Ter
ENST00000519580.5:c.442C>T
ENSP00000429272.1:p.Arg148Ter
ENST00000518176.5:c.49-11711C>T
ENST00000522377.5:c.442C>T
ENSP00000429380.1:p.Arg148Ter
ENST00000518480.5:c.244C>T
ENSP00000428802.1:p.Arg82Ter
LRG_258:g.43882C>T
LRG_258t1:c.442C>T
LRG_258p1:p.Arg148Ter

About this variant

This variant overlaps 25 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays