chr2:214781015:CT> Detail (hg38) (BARD1)

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

Genome

Assembly	Position
hg19	chr2:215,645,739-215,645,740
hg38	chr2:214,781,015-214,781,016

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.858_859delAG	NP_000456.2:p.Glu287ValfsTer5
	NR_104212.1:c.858_859delAG
	NR_104216.1:c.858_859delAG
	NM_001282548.1:c.158+28396_158+28397delAG
	NM_001282545.1:c.858_859delAG	NP_001269474.1:p.Glu287ValfsTer5
	NM_001282543.1:c.801_802delAG	NP_001269472.1:p.Glu268ValfsTer5
	NR_104215.1:c.801_802delAG
	NM_001282549.1:c.364+11281_364+11282delAG
Ensemble	ENST00000260947.9:c.858_859delAG	ENST00000260947.9:p.Glu287ValfsTer5
	ENST00000421162.2:c.215+16045_215+16046delAG
	ENST00000613374.5:c.158+28396_158+28397delAG
	ENST00000613706.5:c.858_859delAG	ENST00000613706.5:p.Glu287ValfsTer5
	ENST00000617164.5:c.801_802delAG	ENST00000617164.5:p.Glu268ValfsTer5
	ENST00000619009.5:c.364+11281_364+11282delAG
	ENST00000620057.4:c.364+11281_364+11282delAG

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

BARD1

Type	Database	ID	Link
Gene	MIM	601593	OMIM
	HGNC	952	HGNC
	Ensembl	ENSG00000138376	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: rs786201868 dbSNP
Genome: hg38
Position: chr2:214,781,015-214,781,016
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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