chr17:31232842:CTCA> Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,559,860-29,559,863 |
hg38 | chr17:31,232,842-31,232,845 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.3457_3460delCTCA | NP_000258.1:p.Leu1153MetfsTer4 |
NM_001042492.2:c.3457_3460delCTCA | NP_001035957.1:p.Leu1153MetfsTer4 | |
Ensemble | ENST00000356175.7:c.3457_3460delCTCA | ENST00000356175.7:p.Leu1153MetfsTer4 |
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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2022-01-03 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2022-08-05 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-12-13 | criteria provided, single submitter |
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Detail | |
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2022-12-02 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2024-02-28 | criteria provided, single submitter | NF1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND NF1-related disorder | 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
- rs1321848637 dbSNP
- Genome
- hg38
- Position
- chr17:31,232,842-31,232,845
- Variant Type
- snv
- Reference Allele
- CTCA
- Alternative Allele
- -
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