Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 1:99851058 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960015

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16864, NM_000642.2:c.16C>T

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays