chr8:100883800:AGTG> Detail (hg19) (VPS13B)

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

Genome

Assembly	Position
hg19	chr8:100,883,800-100,883,803
hg38	chr8:99,871,572-99,871,575

HGVS

VPS13B

Type	Transcript	Protein
RefSeq	NM_017890.4:c.11695_11698delAGTG	NP_060360.3:p.Ser3901ArgfsTer40
	NM_152564.4:c.11620_11623delAGTG	NP_689777.3:p.Ser3876ArgfsTer40
Ensemble	ENST00000358544.7:c.11695_11698delAGTG	ENST00000358544.7:p.Ser3901ArgfsTer40
	ENST00000357162.7:c.11620_11623delAGTG	ENST00000357162.7:p.Ser3876ArgfsTer40

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	Pathogenic Likely pathogenic
Review star
Show details

Links

VPS13B

Type	Database	ID	Link
Gene	MIM	607817	OMIM
	HGNC	2183	HGNC
	Ensembl	ENSG00000132549	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6820266	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-05-16	criteria provided, multiple submitters, no conflicts	Cohen syndrome	germline not provided unknown	Detail
Likely pathogenic	2020-10-08	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.486	Cohen syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) AND Cohen syndrome	ClinVar	Detail
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) AND not provided	ClinVar	Detail
NA	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: rs386834066 dbSNP
Genome: hg19
Position: chr8:100,883,800-100,883,803
Variant Type: snv
Reference Allele: AGTG
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8650
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): 121402
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237096588194593E-6

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