chr17:31181482:T>C 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	chr17:29,508,500-29,508,500 View the variant detail on this assembly version.
hg38	chr17:31,181,482-31,181,482

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.647T>C	NP_000258.1:p.Leu216Pro
	NM_001042492.2:c.647T>C	NP_001035957.1:p.Leu216Pro
	NM_001128147.2:c.647T>C	NP_001121619.1:p.Leu216Pro
Ensemble	ENST00000356175.7:c.647T>C	ENST00000356175.7:p.Leu216Pro
	ENST00000358273.9:c.647T>C	ENST00000358273.9:p.Leu216Pro
	ENST00000431387.8:c.647T>C	ENST00000431387.8:p.Leu216Pro
	ENST00000487476.5:c.647T>C	ENST00000487476.5:p.Leu216Pro
	ENST00000490416.2:c.227T>C	ENST00000490416.2:p.Leu76Pro
	ENST00000691014.1:c.647T>C	ENST00000691014.1:p.Leu216Pro
	ENST00000696138.1:c.647T>C	ENST00000696138.1:p.Leu216Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM977400	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-07-28	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2022-03-11	criteria provided, single submitter	Neurofibromatosis, type 1	germline	Detail
Likely pathogenic	2021-07-10	criteria provided, single submitter		germline	Detail
Likely pathogenic	2016-11-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen...	UNIPROT	10712197	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) AND Abnormality of the skin	ClinVar	Detail
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) AND multiple conditions	ClinVar	Detail
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ...	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: rs199474756 dbSNP
Genome: hg38
Position: chr17:31,181,482-31,181,482
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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