Original source

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

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

Chromosome 17:19663335 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970080

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16380

This variation has 21 HGVS names - click the plus to show

17:g.19663335C>T
ENST00000630662.1:c.-39C>T
ENST00000395575.5:c.943C>T
ENSP00000378942.2:p.Pro315Ser
ENST00000574078.2:n.272C>T
ENST00000631291.1:c.943C>T
ENSP00000486085.1:p.Pro315Ser
ENST00000581518.4:c.943C>T
ENSP00000461916.1:p.Pro315Ser
ENST00000472059.4:c.*501C>T
ENST00000582991.4:c.943C>T
ENSP00000464153.1:p.Pro315Ser
ENST00000176643.9:c.943C>T
ENSP00000176643.6:p.Pro315Ser
ENST00000579855.4:c.943C>T
ENSP00000463637.1:p.Pro315Ser
ENST00000339618.7:c.943C>T
ENSP00000345774.4:p.Pro315Ser
ENST00000578696.1:c.374C>T
ENSP00000464453.1:p.Pro126Ser
ENST00000476965.4:n.693C>T

About this variant

This variant overlaps 16 transcripts and is associated with 1 phenotype.

Variation displays