chr6:138196060:C>T Detail (hg19) (TNFAIP3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:138,196,060-138,196,060
hg38	chr6:137,874,923-137,874,923 View the variant detail on this assembly version.

HGVS

TNFAIP3

Type	Transcript	Protein
RefSeq	NM_001270507.1:c.374C>T	NP_001257436.1:p.Ala125Val
	NM_001270508.1:c.374C>T	NP_001257437.1:p.Ala125Val
	NM_006290.3:c.374C>T	NP_006281.1:p.Ala125Val
Ensemble	ENST00000237289.8:c.374C>T	ENST00000237289.8:p.Ala125Val
	ENST00000420009.6:c.374C>T	ENST00000420009.6:p.Ala125Val
	ENST00000421450.2:c.374C>T	ENST00000421450.2:p.Ala125Val
	ENST00000433680.2:c.374C>T	ENST00000433680.2:p.Ala125Val
	ENST00000612899.5:c.374C>T	ENST00000612899.5:p.Ala125Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

TNFAIP3

Type	Database	ID	Link
Gene	MIM	191163	OMIM
	HGNC	11896	HGNC
	Ensembl	ENSG00000118503	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2015-10-13	criteria provided, single submitter	not specified	germline unknown	Detail
Benign	2024-01-26	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2021-09-18	criteria provided, single submitter	Autoinflammatory syndrome, familial, Behcet-like	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.268	Lupus Erythematosus, Systemic	There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) d...	BeFree	20483768	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) AND not specified	ClinVar	Detail
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) AND not provided	ClinVar	Detail
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) AND Autoinflammatory syndrome, familial, Behcet-like	ClinVar	Detail
There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) domain of TNFAIP3: F1...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs5029941 dbSNP
Genome: hg19
Position: chr6:138,196,060-138,196,060
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121400
Allele Counts in All Race (ExAC): 201
Heterozygous Counts in All Race (ExAC): 199
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.001655683690280066

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