This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 16:3243407 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970913, CM025267

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 63 HGVS names - click the plus to show

Variant allele A
16:g.3243407T>A
ENST00000538326.5:c.*705A>T
ENST00000621655.1:c.*381A>T
ENST00000536980.5:c.*356A>T
ENST00000339854.8:c.1540A>T
ENSP00000339639.4:p.Met514Leu
ENST00000541159.5:c.*284A>T
ENST00000570511.5:c.*564A>T
ENST00000574583.5:c.*564A>T
ENST00000572244.5:c.*464A>T
ENST00000537682.5:c.*356A>T
ENST00000219596.5:c.2080A>T
ENSP00000219596.1:p.Met694Leu
ENST00000576315.5:c.*597A>T
ENST00000536379.5:c.1447A>T
ENSP00000445079.1:p.Met483Leu
ENST00000542898.5:c.*356A>T
ENST00000539145.5:c.*713A>T
LRG_190:g.18221A>T
LRG_190t1:c.2080A>T
LRG_190p1:p.Met694Leu

Variant allele C
16:g.3243407T>C
ENST00000538326.5:c.*705A>G
ENST00000621655.1:c.*381A>G
ENST00000536980.5:c.*356A>G
ENST00000339854.8:c.1540A>G
ENSP00000339639.4:p.Met514Val
ENST00000541159.5:c.*284A>G
ENST00000570511.5:c.*564A>G
ENST00000574583.5:c.*564A>G
ENST00000572244.5:c.*464A>G
ENST00000537682.5:c.*356A>G
ENST00000219596.5:c.2080A>G
ENSP00000219596.1:p.Met694Val
ENST00000576315.5:c.*597A>G
ENST00000536379.5:c.1447A>G
ENSP00000445079.1:p.Met483Val
ENST00000542898.5:c.*356A>G
ENST00000539145.5:c.*713A>G
LRG_190:g.18221A>G
LRG_190t1:c.2080A>G
LRG_190p1:p.Met694Val

Variant allele G
16:g.3243407T>G
ENST00000538326.5:c.*705A>C
ENST00000621655.1:c.*381A>C
ENST00000536980.5:c.*356A>C
ENST00000339854.8:c.1540A>C
ENSP00000339639.4:p.Met514Leu
ENST00000541159.5:c.*284A>C
ENST00000570511.5:c.*564A>C
ENST00000574583.5:c.*564A>C
ENST00000572244.5:c.*464A>C
ENST00000537682.5:c.*356A>C
ENST00000219596.5:c.2080A>C
ENSP00000219596.1:p.Met694Leu
ENST00000576315.5:c.*597A>C
ENST00000536379.5:c.1447A>C
ENSP00000445079.1:p.Met483Leu
ENST00000542898.5:c.*356A>C
ENST00000539145.5:c.*713A>C
LRG_190:g.18221A>C
LRG_190t1:c.2080A>C
LRG_190p1:p.Met694Leu

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 48 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays