chr17:31230373:T>G 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	chr17:29,557,391-29,557,391 View the variant detail on this assembly version.
hg38	chr17:31,230,373-31,230,373

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.3104T>G	NP_000258.1:p.Met1035Arg
	NM_001042492.2:c.3104T>G	NP_001035957.1:p.Met1035Arg
Ensemble	ENST00000356175.7:c.3104T>G	ENST00000356175.7:p.Met1035Arg
	ENST00000358273.9:c.3104T>G	ENST00000358273.9:p.Met1035Arg
	ENST00000691014.1:c.3134T>G	ENST00000691014.1:p.Met1045Arg
	ENST00000696138.1:c.3149T>G	ENST00000696138.1:p.Met1050Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-03-26	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	NA	CLINVAR		Detail
0.670	neurofibromatosis 1	LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (N...	UNIPROT	8807336	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) AND Neurofibromatosis, type 1	ClinVar	Detail
NA	DisGeNET	Detail
LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1).	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: rs137854553 dbSNP
Genome: hg38
Position: chr17:31,230,373-31,230,373
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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