Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 8:31157461 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961466

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12749

This variant has 7 HGVS names - click the plus to show

8:g.31157461C>T
ENST00000521620.5:n.2546C>T
ENST00000298139.5:c.3913C>T
ENSP00000298139.5:p.Arg1305Ter
LRG_524:g.129200C>T
LRG_524t1:c.3913C>T
LRG_524p1:p.Arg1305Ter

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays