Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 6:112069555 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC HM040052

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11876

HGVS names

This variant has 16 HGVS names - Hide

6:g.112069555T>C
ENST00000361714.5:c.1000T>C
ENSP00000354734.2:p.Ser334Pro
ENST00000620524.3:n.931T>C
ENST00000409166.5:c.328T>C
ENSP00000386467.1:p.Ser110Pro
ENST00000368663.4:c.*306T>C
ENST00000454589.5:c.*404T>C
ENST00000613648.1:n.835T>C
ENST00000368664.7:c.*404T>C
ENST00000230529.9:c.1000T>C
ENSP00000230529.5:p.Ser334Pro
ENST00000368666.6:c.1054T>C
ENSP00000357655.3:p.Ser352Pro
ENST00000604763.5:c.1000T>C
ENSP00000473777.1:p.Ser334Pro

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays