chr17:31337460:GCTGTCATTGCCTTCCGTT> 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	chr17:29,664,478-29,664,496
hg38	chr17:31,337,460-31,337,478

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.6457_6475delGCTGTCATTGCCTTCCGTT	NP_000258.1:p.Ala2153ProfsTer20
	NM_001042492.2:c.6520_6538delGCTGTCATTGCCTTCCGTT	NP_001035957.1:p.Ala2174ProfsTer20
Ensemble	ENST00000356175.7:c.6457_6475delGCTGTCATTGCCTTCCGTT	ENST00000356175.7:p.Ala2153ProfsTer20
	ENST00000358273.9:c.6520_6538delGCTGTCATTGCCTTCCGTT	ENST00000358273.9:p.Ala2174ProfsTer20
	ENST00000684826.1:c.1084_1102delGCTGTCATTGCCTTCCGTT	ENST00000684826.1:p.Ala362ProfsTer20
	ENST00000687027.1:c.676_694delGCTGTCATTGCCTTCCGTT	ENST00000687027.1:p.Ala226ProfsTer20
	ENST00000691014.1:c.6550_6568delGCTGTCATTGCCTTCCGTT	ENST00000691014.1:p.Ala2184ProfsTer20
	ENST00000693617.1:c.1084_1102delGCTGTCATTGCCTTCCGTT	ENST00000693617.1:p.Ala362ProfsTer20
	ENST00000696138.1:c.6502_6520delGCTGTCATTGCCTTCCGTT	ENST00000696138.1:p.Ala2168ProfsTer20

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2014-12-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.6520_6538del (p.Ala2174fs) AND Hereditary cancer-predisposing syndrome	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: rs786203806 dbSNP
Genome: hg38
Position: chr17:31,337,460-31,337,478
Variant Type: snv
Reference Allele: GCTGTCATTGCCTTCCGTT
Alternative Allele: -

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