chr2:214781336:AT> 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	chr2:215,646,060-215,646,061
hg38	chr2:214,781,336-214,781,337

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.537_538delAT	NP_000456.2:p.Tyr180Ter
	NR_104212.1:c.537_538delAT
	NR_104216.1:c.537_538delAT
	NM_001282548.1:c.158+28075_158+28076delAT
	NM_001282545.1:c.537_538delAT	NP_001269474.1:p.Tyr180Ter
	NM_001282543.1:c.480_481delAT	NP_001269472.1:p.Tyr161Ter
	NR_104215.1:c.480_481delAT
	NM_001282549.1:c.364+10960_364+10961delAT
Ensemble	ENST00000260947.9:c.537_538delAT	ENST00000260947.9:p.Tyr180Ter
	ENST00000421162.2:c.215+15724_215+15725delAT
	ENST00000613374.5:c.158+28075_158+28076delAT
	ENST00000613706.5:c.537_538delAT	ENST00000613706.5:p.Tyr180Ter
	ENST00000617164.5:c.480_481delAT	ENST00000617164.5:p.Tyr161Ter
	ENST00000619009.5:c.364+10960_364+10961delAT
	ENST00000620057.4:c.364+10960_364+10961delAT

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
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	tgv190330532	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: -
Genome: hg38
Position: chr2:214,781,336-214,781,337
Variant Type: snv
Reference Allele: AT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1560693641618497E-4
Chromosome Counts in All Race (ExAC): 121186
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): 8.251778258214646E-6

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