Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)
Location

Chromosome 16:3249586 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990837

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 27 HGVS names - click the plus to show

16:g.3249586G>A
ENST00000538326.5:c.1105C>T
ENSP00000437486.1:p.Pro369Ser
ENST00000621655.1:c.472C>T
ENSP00000481436.1:p.Pro158Ser
ENST00000219596.5:c.1105C>T
ENSP00000219596.1:p.Pro369Ser
ENST00000576315.5:c.278-2340C>T
ENST00000536980.5:c.472C>T
ENSP00000444178.1:p.Pro158Ser
ENST00000339854.8:c.565C>T
ENSP00000339639.4:p.Pro189Ser
ENST00000536379.5:c.472C>T
ENSP00000445079.1:p.Pro158Ser
ENST00000570511.5:c.911-2340C>T
ENST00000541159.5:c.472C>T
ENSP00000438711.1:p.Pro158Ser
ENST00000574583.5:c.278-2340C>T
ENST00000542898.5:c.1198C>T
ENSP00000444615.1:p.Pro400Ser
ENST00000572244.5:c.278-3039C>T
ENST00000537682.5:c.1105C>T
ENSP00000438611.1:p.Pro369Ser
ENST00000539145.5:c.278-2340C>T
LRG_190:g.12042C>T
LRG_190t1:c.1105C>T
LRG_190p1:p.Pro369Ser

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 16 transcripts, has 2807 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays