BANF1 BAF nuclear assembly factor 1

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: BANF1
Type: protein-coding
Description: BAF nuclear assembly factor 1
Entrez Gene ID: 8815
Genome: hg19
Position: chr11:65,770,052-65,771,602
Genome: hg38
Position: chr11:66,002,581-66,004,131
MIM: 603811 OMIM
HGNC: HGNC:17397 HGNC
Ensembl: ENSG00000175334 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	20
Likely benign	0	8
Uncertain significance	0	26

Ranking

	ClinVar
	0
	0
	2
	52
	2

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BAF
SYNONYM	BCRP1
SYNONYM	D14S1460
SYNONYM	NGPS
MIM	603811 OMIM
HGNC	HGNC:17397 HGNC
Ensembl	ENSG00000175334 Ensembl
AllianceGenome	HGNC:17397

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000533166.5	hg38	chr11	66,002,581	66,004,131	1,551
ENST00000527348.1	hg38	chr11	66,002,782	66,003,898	1,117
ENST00000312175.7	hg38	chr11	66,002,503	66,004,149	1,647
ENST00000445560.6	hg38	chr11	66,002,228	66,004,146	1,919
ENST00000445560.6	hg19	chr11	65,769,699	65,771,617	1,919
ENST00000312175.7	hg19	chr11	65,769,974	65,771,620	1,647
ENST00000533166.5	hg19	chr11	65,770,052	65,771,602	1,551
ENST00000527348.1	hg19	chr11	65,770,253	65,771,369	1,117

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