Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 8:22164010 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022460, CM024532, CM093904

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_053_SFTPC_178620_0004, 5083

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays