chr8:90958442:TTTTAATCACCAGT> Detail (hg19) (NBN)

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

Information

Genome

Assembly	Position
hg19	chr8:90,958,442-90,958,455
hg38	chr8:89,946,214-89,946,227

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.1983_1996delACTGGTGATTAAAA	NP_002476.2:p.Val663TyrfsTer10
	NM_001024688.2:c.1737_1750delACTGGTGATTAAAA	NP_001019859.1:p.Val581TyrfsTer10
Ensemble	ENST00000265433.8:c.1983_1996delACTGGTGATTAAAA	ENST00000265433.8:p.Val663TyrfsTer10
	ENST00000409330.5:c.1737_1750delACTGGTGATTAAAA	ENST00000409330.5:p.Val581TyrfsTer10
	ENST00000517337.2:c.1737_1750delACTGGTGATTAAAA	ENST00000517337.2:p.Val581TyrfsTer10
	ENST00000523444.2:c.1737_1750delACTGGTGATTAAAA	ENST00000523444.2:p.Val581TyrfsTer10
	ENST00000697292.1:c.1983_1996delACTGGTGATTAAAA	ENST00000697292.1:p.Val663TyrfsTer10
	ENST00000697293.1:c.1983_1996delACTGGTGATTAAAA	ENST00000697293.1:p.Val663TyrfsTer10
	ENST00000697298.1:c.1737_1750delACTGGTGATTAAAA	ENST00000697298.1:p.Val581TyrfsTer10
	ENST00000697299.1:c.1737_1750delACTGGTGATTAAAA	ENST00000697299.1:p.Val581TyrfsTer10
	ENST00000697304.1:c.1671_1684delACTGGTGATTAAAA	ENST00000697304.1:p.Val559TyrfsTer10
	ENST00000697307.1:c.1846-2861_1846-2848delACTGGTGATTAAAA
	ENST00000697308.1:c.1914_1927delACTGGTGATTAAAA	ENST00000697308.1:p.Val640TyrfsTer10
	ENST00000697309.1:c.1983_1996delACTGGTGATTAAAA	ENST00000697309.1:p.Val663TyrfsTer10
	ENST00000697310.1:c.1983_1996delACTGGTGATTAAAA	ENST00000697310.1:p.Val663TyrfsTer10

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

NBN

Type	Database	ID	Link
Gene	MIM	602667	OMIM
	HGNC	7652	HGNC
	Ensembl	ENSG00000104320	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
Pathogenic	2023-03-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002485.5(NBN):c.1986_1999del (p.Val663fs) AND Hereditary cancer-predisposing syndrome	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: rs587782653 dbSNP
Genome: hg19
Position: chr8:90,958,442-90,958,455
Variant Type: snv
Reference Allele: TTTTAATCACCAGT
Alternative Allele: -

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