chr8:89970455:AC> Detail (hg38) (NBN)

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

Genome

Assembly	Position
hg19	chr8:90,982,683-90,982,684
hg38	chr8:89,970,455-89,970,456

HGVS

NBN

Type	Transcript	Protein
RefSeq	NM_002485.4:c.804_805delGT	NP_002476.2:p.Val270CysfsTer2
	NM_001024688.2:c.558_559delGT	NP_001019859.1:p.Val188CysfsTer2
Ensemble	ENST00000265433.8:c.804_805delGT	ENST00000265433.8:p.Val270CysfsTer2
	ENST00000409330.5:c.558_559delGT	ENST00000409330.5:p.Val188CysfsTer2
	ENST00000517337.2:c.558_559delGT	ENST00000517337.2:p.Val188CysfsTer2
	ENST00000523444.2:c.558_559delGT	ENST00000523444.2:p.Val188CysfsTer2
	ENST00000697292.1:c.804_805delGT	ENST00000697292.1:p.Val270CysfsTer2
	ENST00000697293.1:c.804_805delGT	ENST00000697293.1:p.Val270CysfsTer2
	ENST00000697298.1:c.558_559delGT	ENST00000697298.1:p.Val188CysfsTer2
	ENST00000697299.1:c.558_559delGT	ENST00000697299.1:p.Val188CysfsTer2
	ENST00000697304.1:c.585-5949_585-5948delGT
	ENST00000697307.1:c.804_805delGT	ENST00000697307.1:p.Val270CysfsTer2
	ENST00000697308.1:c.804_805delGT	ENST00000697308.1:p.Val270CysfsTer2
	ENST00000697309.1:c.804_805delGT	ENST00000697309.1:p.Val270CysfsTer2
	ENST00000697310.1:c.804_805delGT	ENST00000697310.1:p.Val270CysfsTer2

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: rs786202490 dbSNP
Genome: hg38
Position: chr8:89,970,455-89,970,456
Variant Type: snv
Reference Allele: AC
Alternative Allele: -

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