chr16:23634324:G>A Detail (hg19) (PALB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:23,634,324-23,634,324 |
hg38 | chr16:23,623,003-23,623,003 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024675.3:c.2962C>T | NP_078951.2:p.Gln988Ter |
Ensemble | ENST00000568219.5:c.2077C>T | ENST00000568219.5:p.Gln693Ter |
ENST00000713774.1:c.2962C>T | ENST00000713774.1:p.Gln988Ter |
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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2007-02-01 | no assertion criteria provided | Fanconi anemia complementation group N |
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Detail |
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2007-02-01 | no assertion criteria provided | Breast cancer, susceptibility to |
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Detail |
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2023-11-20 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-10-17 | criteria provided, single submitter | not provided |
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Detail |
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2023-09-08 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Fanconi anemia complementation group N | ClinVar | Detail |
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Breast cancer, susceptibility to | ClinVar | Detail |
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND not provided | ClinVar | Detail |
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs118203999 dbSNP
- Genome
- hg19
- Position
- chr16:23,634,324-23,634,324
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser