chr2:215646060:AT> Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,646,060-215,646,061
hg38 chr2:214,781,336-214,781,337 

HGVS

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
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/09/24 breast, unspecified germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
hg19
Position
chr2:215,646,060-215,646,061
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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