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 2:74378104 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030648 ; PhenCode IPNMDB_643 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_004082.4:c.175G>A, 9921

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

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays