chr2:215645401:T> Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,645,401-215,645,401
hg38 chr2:214,780,677-214,780,677 

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.1197delA NP_000456.2:p.Ser400ValfsTer8
NR_104212.1:c.1197delA
NR_104216.1:c.1197delA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-12-17 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

DescrptionSourceLinks
NM_000465.4(BARD1):c.1198del (p.Ser400fs) 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
rs786203891 dbSNP
Genome
hg19
Position
chr2:215,645,401-215,645,401
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser