chr17:31181407: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	chr17:29,508,425-29,508,425 View the variant detail on this assembly version.
hg38	chr17:31,181,407-31,181,407

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.587-15T>C
	NM_001042492.2:c.587-15T>C
	NM_001128147.2:c.587-15T>C
Ensemble	ENST00000356175.7:c.587-15T>C
	ENST00000358273.9:c.587-15T>C
	ENST00000431387.8:c.587-15T>C
	ENST00000487476.5:c.587-15T>C
	ENST00000490416.2:c.167-15T>C
	ENST00000691014.1:c.587-15T>C
	ENST00000696138.1:c.587-15T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
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	tgv115990397	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-05-15	criteria provided, single submitter	Neurofibromatosis, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.587-15T>C AND Neurofibromatosis, type 1	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2143773718 dbSNP
Genome: hg38
Position: chr17:31,181,407-31,181,407
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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