Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 17:19664997 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001057

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16384

This variant has 20 HGVS names - click the plus to show

17:g.19664997A>G
ENST00000395575.6:c.1157A>G
ENSP00000378942.2:p.Asn386Ser
ENST00000630662.2:c.176A>G
ENSP00000487353.1:p.Asn59Ser
ENST00000581518.5:c.1157A>G
ENSP00000461916.1:p.Asn386Ser
ENST00000631291.2:c.1107+1498A>G
ENST00000573947.1:c.114+1498A>G
ENST00000472059.5:c.*715A>G
ENST00000582991.5:c.1107+1498A>G
ENST00000176643.10:c.1157A>G
ENSP00000176643.6:p.Asn386Ser
ENST00000579855.5:c.1157A>G
ENSP00000463637.1:p.Asn386Ser
ENST00000571163.1:c.176A>G
ENSP00000459977.1:p.Asn59Ser
ENST00000339618.8:c.1157A>G
ENSP00000345774.4:p.Asn386Ser
ENST00000476965.5:n.907A>G

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays