Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 1:99875394 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM011271

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000642.2:c.1222C>T, 16875

This variant has 16 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays