Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

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

Co-located variant

HGMD-PUBLIC CM053818

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_027_COL8A2_120252_0003

HGVS names

This variant has 16 HGVS names - Hide

Variant allele C
1:g.36098332A>C
ENST00000303143.9:c.1349T>G
ENSP00000305913.4:p.Leu450Trp
ENST00000481785.1:c.1154T>G
ENSP00000436433.1:p.Leu385Trp
ENST00000615990.1:c.773-252T>G
ENST00000397799.1:c.1349T>G
ENSP00000380901.1:p.Leu450Trp

Variant allele G
1:g.36098332A>G
ENST00000303143.9:c.1349T>C
ENSP00000305913.4:p.Leu450Ser
ENST00000481785.1:c.1154T>C
ENSP00000436433.1:p.Leu385Ser
ENST00000615990.1:c.773-252T>C
ENST00000397799.1:c.1349T>C
ENSP00000380901.1:p.Leu450Ser

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays