Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 1:115576636 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012810

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5595

This variation has 5 HGVS names - click the plus to show

1:g.115576636C>T
ENST00000256592.1:c.205C>T
ENSP00000256592.1:p.Gln69Ter
ENST00000369517.1:c.205C>T
ENSP00000358530.1:p.Gln69Ter

Variation displays