chr17:31230383:G>A Detail (hg38) (NF1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:29,557,401-29,557,401 View the variant detail on this assembly version.
hg38	chr17:31,230,383-31,230,383

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.3113+1G>A
	NM_001042492.2:c.3113+1G>A
Ensemble	ENST00000356175.7:c.3113+1G>A
	ENST00000358273.9:c.3113+1G>A
	ENST00000691014.1:c.3143+1G>A
	ENST00000696138.1:c.3158+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

NF1

Type	Database	ID	Link
Gene	MIM	613113	OMIM
	HGNC	7765	HGNC
	Ensembl	ENSG00000196712	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM3179670	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-03	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline unknown	Detail
Pathogenic	2021-11-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2018-11-10	criteria provided, single submitter	Neurofibromatosis, type 1	de novo	Detail
Pathogenic	2022-03-18	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-09-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-12	criteria provided, single submitter	NF1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.3113+1G>A AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.3113+1G>A AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.3113+1G>A AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3113+1G>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.3113+1G>A AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3113+1G>A AND NF1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs267606599 dbSNP
Genome: hg38
Position: chr17:31,230,383-31,230,383
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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