Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 1:36098332 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053818

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_027_COL8A2_120252_0003

This variant has 8 HGVS names - click the plus to show

1:g.36098332A>C
ENST00000303143.8:c.1349T>G
ENSP00000305913.4:p.Leu450Trp
ENST00000481785.1:c.1154T>G
ENSP00000436433.1:p.Leu385Trp
ENST00000397799.1:c.1349T>G
ENSP00000380901.1:p.Leu450Trp
ENST00000615990.1:c.773-252T>G

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays