Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 8:99384294 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041271

Most severe consequence
Clinical significance

Synonyms

LSDB 15256

This variation has 13 HGVS names - click the plus to show

8:g.99384294C>T
ENST00000522802.4:n.133C>T
ENST00000496144.4:c.2911C>T
ENSP00000430900.1:p.Arg971Ter
ENST00000358544.5:c.2911C>T
ENSP00000351346.2:p.Arg971Ter
ENST00000357162.5:c.2911C>T
ENSP00000349685.2:p.Arg971Ter
LRG_351:g.376029C>T
LRG_351t2:c.2911C>T
LRG_351p2:p.Arg971Ter
LRG_351t1:c.2911C>T
LRG_351p1:p.Arg971Ter

About this variant

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

Variation displays