Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 2:27322448 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM083825

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002437.4:c.70G>T, 2181

HGVS names

This variant has 29 HGVS names - Show

About this variant

This variant overlaps 25 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays