Original source

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

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


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

HGVS names

This variant has 29 HGVS names - Show

About this variant

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

Variant displays