chr17:29663768:T>C Detail (hg19) (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	chr17:29,663,768-29,663,768
hg38	chr17:31,336,750-31,336,750 View the variant detail on this assembly version.

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_001042492.2:c.6263T>C	NP_001035957.1:p.Leu2088Pro
	NM_000267.3:c.6200T>C	NP_000258.1:p.Leu2067Pro
Ensemble	ENST00000684826.1:c.827T>C	ENST00000684826.1:p.Leu276Pro
	ENST00000358273.9:c.6263T>C	ENST00000358273.9:p.Leu2088Pro
	ENST00000693617.1:c.827T>C	ENST00000693617.1:p.Leu276Pro
	ENST00000696138.1:c.6245T>C	ENST00000696138.1:p.Leu2082Pro
	ENST00000691014.1:c.6293T>C	ENST00000691014.1:p.Leu2098Pro
	ENST00000356175.7:c.6200T>C	ENST00000356175.7:p.Leu2067Pro
	ENST00000687027.1:c.419T>C	ENST00000687027.1:p.Leu140Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	2001-12-01	no assertion criteria provided	Neurofibromatosis, familial spinal	germline	Detail
Uncertain significance	2022-05-26	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	Neurofibromatosis, familial spinal	Spinal neurofibromatosis without café-au-lait macules in two families with null ...	UNIPROT	11704931	Detail
0.361	Neurofibromatosis, familial spinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) AND Neurofibromatosis, familial spinal	ClinVar	Detail
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) AND multiple conditions	ClinVar	Detail
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1...	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: rs137854561 dbSNP
Genome: hg19
Position: chr17:29,663,768-29,663,768
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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