chr16:23607891:T> Detail (hg38) (PALB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:23,619,212-23,619,212 |
hg38 | chr16:23,607,891-23,607,891 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024675.3:c.3323delA | NP_078951.2:p.Tyr1108SerfsTer16 |
Ensemble | ENST00000261584.9:c.3323delA | ENST00000261584.9:p.Tyr1108SerfsTer16 |
ENST00000561514.3:c.3329delA | ENST00000561514.3:p.Tyr1110SerfsTer16 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-06-28 | criteria provided, single submitter | Fanconi anemia complementation group N |
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Detail |
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2022-03-22 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-12 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2023-01-05 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-04-16 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2021-08-12 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N |
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Detail |
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2021-08-12 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N |
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Detail |
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2021-08-12 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | FANCONI ANEMIA, COMPLEMENTATION GROUP N | NA | CLINVAR | Detail | |
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.127 | Breast Cancer, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Fanconi anemia complementation group N | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Familial cancer of breast | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND not provided | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Malignant tumor of breast | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions | ClinVar | Detail |
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | 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
- rs180177135 dbSNP
- Genome
- hg38
- Position
- chr16:23,607,891-23,607,891
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
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