Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 8:22163096 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM022454

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5081, 2010_April_001_051_SFTPC_178620_0002

HGVS names

This variant has 34 HGVS names - Show

About this variant

This variant overlaps 48 transcripts and is associated with 2 phenotypes.

Variant displays