Original source

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

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

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

Co-located

with HGMD-PUBLIC CM083825

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

This variant has 29 HGVS names - click the plus to show

About this variant

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

Variant displays