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 14:35404550 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033654 ; PhenCode NFKBIAbase_D0063:g.1189G>T (C/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 15 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays