chr16:23646558:T> Detail (hg19) (PALB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:23,646,558-23,646,558 |
hg38 | chr16:23,635,237-23,635,237 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024675.3:c.1309delA | NP_078951.2:p.Phe440LeufsTer12 |
Ensemble | ENST00000568219.5:c.424delA | ENST00000568219.5:p.Phe145LeufsTer12 |
ENST00000697379.2:c.1315delA | ENST00000697379.2:p.Phe442LeufsTer12 |
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 |
---|---|---|---|---|---|
0.127 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.120 | Pancreatic cancer, susceptibility to, 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_024675.4(PALB2):c.1314del (p.Phe440fs) AND not provided | ClinVar | Detail |
NM_024675.4(PALB2):c.1314del (p.Phe440fs) AND Familial cancer of breast | ClinVar | Detail |
NA | DisGeNET | 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
- rs515726065 dbSNP
- Genome
- hg19
- Position
- chr16:23,646,558-23,646,558
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser