Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
T/A/C | Ancestral: T | Ambiguity code: H | MAF: < 0.01 (C)
Location

Chromosome 16:3293403 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055415, CM981245

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 40 HGVS names - click the plus to show

Variant allele A
16:g.3293403T>A
ENST00000538326.1:c.*709A>T
ENST00000219596.1:c.2084A>T
ENSP00000219596.1:p.Lys695Met
ENST00000576315.1:c.*601A>T
ENST00000536980.1:c.*360A>T
ENST00000536379.1:c.1451A>T
ENSP00000445079.1:p.Lys484Met
ENST00000339854.4:c.1544A>T
ENSP00000339639.4:p.Lys515Met
ENST00000541159.1:c.*288A>T
ENST00000570511.1:c.*568A>T
ENST00000574583.1:c.*568A>T
ENST00000542898.1:c.*360A>T
ENST00000572244.1:c.*468A>T
ENST00000537682.1:c.*360A>T
ENST00000539145.1:c.*717A>T
LRG_190:g.18225A>T
LRG_190t1.1:c.2084A>T
LRG_190p1.1:p.Lys695Met

Variant allele C
16:g.3293403T>C
ENST00000538326.1:c.*709A>G
ENST00000219596.1:c.2084A>G
ENSP00000219596.1:p.Lys695Arg
ENST00000576315.1:c.*601A>G
ENST00000536980.1:c.*360A>G
ENST00000536379.1:c.1451A>G
ENSP00000445079.1:p.Lys484Arg
ENST00000339854.4:c.1544A>G
ENSP00000339639.4:p.Lys515Arg
ENST00000541159.1:c.*288A>G
ENST00000570511.1:c.*568A>G
ENST00000574583.1:c.*568A>G
ENST00000542898.1:c.*360A>G
ENST00000572244.1:c.*468A>G
ENST00000537682.1:c.*360A>G
ENST00000539145.1:c.*717A>G
LRG_190:g.18225A>G
LRG_190t1.1:c.2084A>G
LRG_190p1.1:p.Lys695Arg

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays