chr6:32293475:T>G Detail (hg38) (TSBP1)

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

Genome

Assembly	Position
hg19	chr6:32,261,252-32,261,252 View the variant detail on this assembly version.
hg38	chr6:32,293,475-32,293,475

HGVS

TSBP1

Type	Transcript	Protein
RefSeq	NM_006781.4:c.1198A>C	NP_006772.3:p.Lys400Gln
	NM_001286475.1:c.1150A>C	NP_001273404.1:p.Lys384Gln
	NM_001286474.1:c.1192A>C	NP_001273403.1:p.Lys398Gln
Ensemble	ENST00000375015.8:c.1195A>C	ENST00000375015.8:p.Lys399Gln
	ENST00000442822.6:c.1171A>C	ENST00000442822.6:p.Lys391Gln
	ENST00000447241.6:c.1198A>C	ENST00000447241.6:p.Lys400Gln
	ENST00000527965.5:c.1150A>C	ENST00000527965.5:p.Lys384Gln
	ENST00000533191.6:c.1192A>C	ENST00000533191.6:p.Lys398Gln

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
Review star	[No Data.]
Show details

Links

TSBP1

Type	Database	ID	Link
Gene	MIM	618151	OMIM
	HGNC	13922	HGNC
	Ensembl	ENSG00000204296	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv259847849	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	Diabetes Mellitus, Insulin-Dependent	NA	GAD		Detail
0.120	Idiopathic Membranous Glomerulonephritis	Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	GWASCAT	21323541	Detail
0.009	Lupus Erythematosus, Systemic	[We identified and then confirmed through replication two new genetic loci for S...	GAD	18204098	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.	DisGeNET	Detail
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio...	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: -
Genome: hg38
Position: chr6:32,293,475-32,293,475
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8524
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): 116298
Allele Counts in All Race (ExAC): 6988
Heterozygous Counts in All Race (ExAC): 6316
Homozygous Counts in All Race (ExAC): 336
Allele Frequency in All Race (ExAC): 0.06008701783349671

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