chr2:215595204:TA> Detail (hg19) (BARD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:215,595,204-215,595,205 |
hg38 | chr2:214,730,480-214,730,481 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000465.3:c.1931_1932delTA | NP_000456.2:p.Cys645Ter |
NR_104212.1:c.1931_1932delTA | ||
NR_104216.1:c.1931_1932delTA |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() ![]() |
2022-06-21 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2023-12-18 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
![]() ![]() |
Detail |
![]() |
2023-09-19 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
![]() |
2022-12-05 | criteria provided, single submitter |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND Hereditary cancer-predisposing syndrom... | ClinVar | Detail |
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND Familial cancer of breast | ClinVar | Detail |
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND not provided | ClinVar | Detail |
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND Malignant tumor of breast | 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
- rs587782504 dbSNP
- Genome
- hg19
- Position
- chr2:215,595,204-215,595,205
- Variant Type
- snv
- Reference Allele
- TA
- Alternative Allele
- -
Genome browser