chr17:31350209:C>T Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,677,227-29,677,227 View the variant detail on this assembly version. |
hg38 | chr17:31,350,209-31,350,209 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.7285C>T | NP_000258.1:p.Arg2429Ter |
NM_001042492.2:c.7348C>T | NP_001035957.1:p.Arg2450Ter | |
Ensemble | ENST00000356175.7:c.7285C>T | ENST00000356175.7:p.Arg2429Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-08-07 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-11-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-09-28 | criteria provided, single submitter |
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Detail | |
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2023-12-13 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2018-09-14 | criteria provided, single submitter | not specified |
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Detail |
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no assertion criteria provided | Malignant tumor of urinary bladder |
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Detail | |
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2023-06-02 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2023-03-13 | criteria provided, single submitter | NF1-related disorder |
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Detail |
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_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND not specified | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND Malignant tumor of urinary bladder | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) AND NF1-related disorder | 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
- rs786202457 dbSNP
- Genome
- hg38
- Position
- chr17:31,350,209-31,350,209
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser