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 8:31081132 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961463

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12754, NM_000553.4:c.1105C>T

This variation has 6 HGVS names - click the plus to show

8:g.31081132C>T
ENST00000298139.5:c.1105C>T
ENSP00000298139.5:p.Arg369Ter
LRG_524:g.52871C>T
LRG_524t1.1:c.1105C>T
LRG_524p1.1:p.Arg369Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays