chr2:214781215:AAAT> Detail (hg38) (BARD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:215,645,939-215,645,942 |
hg38 | chr2:214,781,215-214,781,218 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000465.3:c.656_659delATTT | NP_000456.2:p.Asn219LysfsTer35 |
NR_104212.1:c.656_659delATTT | ||
NR_104216.1:c.656_659delATTT |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.657_660del (p.Asn219fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000465.4(BARD1):c.657_660del (p.Asn219fs) AND Familial cancer 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
- rs587781671 dbSNP
- Genome
- hg38
- Position
- chr2:214,781,215-214,781,218
- Variant Type
- snv
- Reference Allele
- AAAT
- Alternative Allele
- -
Genome browser