chr17:31338803:AAG> 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	chr17:29,665,821-29,665,823
hg38	chr17:31,338,803-31,338,805

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.6856_6858delAAG	NP_000258.1:p.Lys2286del
	NM_001042492.2:c.6919_6921delAAG	NP_001035957.1:p.Lys2307del
Ensemble	ENST00000356175.7:c.6856_6858delAAG	ENST00000356175.7:p.Lys2286del
	ENST00000358273.9:c.6919_6921delAAG	ENST00000358273.9:p.Lys2307del
	ENST00000684826.1:c.1483_1485delAAG	ENST00000684826.1:p.Lys495del
	ENST00000687027.1:c.1075_1077delAAG	ENST00000687027.1:p.Lys359del
	ENST00000691014.1:c.6949_6951delAAG	ENST00000691014.1:p.Lys2317del
	ENST00000693617.1:c.1483_1485delAAG	ENST00000693617.1:p.Lys495del
	ENST00000696138.1:c.6901_6903delAAG	ENST00000696138.1:p.Lys2301del

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2014-11-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-02-23	criteria provided, single submitter	Neurofibromatosis, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del) AND Neurofibromatosis, type 1	ClinVar	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: rs587782819 dbSNP
Genome: hg38
Position: chr17:31,338,803-31,338,805
Variant Type: snv
Reference Allele: AAG
Alternative Allele: -

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