Original source

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

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

Chromosome 8:99818473 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045439

Most severe consequence
Clinical significance

Synonyms

LSDB 15260

This variation has 10 HGVS names - click the plus to show

8:g.99818473T>C
ENST00000358544.5:c.8459T>C
ENSP00000351346.2:p.Ile2820Thr
ENST00000357162.5:c.8384T>C
ENSP00000349685.2:p.Ile2795Thr
LRG_351:g.810208T>C
LRG_351t2:c.8384T>C
LRG_351p2:p.Ile2795Thr
LRG_351t1:c.8459T>C
LRG_351p1:p.Ile2820Thr

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variation displays