Original source

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

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

Chromosome 8:43197682 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1100121, COSM1100122 ; HGMD-PUBLIC CM071800

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16750

HGVS names

This variant has 7 HGVS names - Hide

8:g.43197682C>T
ENST00000521576.1:c.704C>T
ENSP00000429029.1:p.Ser235Phe
ENST00000519705.1:n.869C>T
ENST00000379644.8:c.1553C>T
ENSP00000368965.4:p.Ser518Phe
ENST00000523989.1:n.1866C>T

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays