chr17:31219018:AG> 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	chr17:29,546,036-29,546,037
hg38	chr17:31,219,018-31,219,019

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.1541_1542delAG	NP_000258.1:p.Gln514ArgfsTer43
	NM_001042492.2:c.1541_1542delAG	NP_001035957.1:p.Gln514ArgfsTer43
	NM_001128147.2:c.1541_1542delAG	NP_001121619.1:p.Gln514ArgfsTer43
Ensemble	ENST00000356175.7:c.1541_1542delAG	ENST00000356175.7:p.Gln514ArgfsTer43
	ENST00000358273.9:c.1541_1542delAG	ENST00000358273.9:p.Gln514ArgfsTer43
	ENST00000431387.8:c.1541_1542delAG	ENST00000431387.8:p.Gln514ArgfsTer43
	ENST00000487476.5:c.1541_1542delAG	ENST00000487476.5:p.Gln514ArgfsTer48
	ENST00000691014.1:c.1571_1572delAG	ENST00000691014.1:p.Gln524ArgfsTer43
	ENST00000696138.1:c.1586_1587delAG	ENST00000696138.1:p.Gln529ArgfsTer43

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	2023-12-12	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	de novo germline unknown	Detail
Pathogenic	2018-01-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-02-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2019-01-05	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2021-10-11	criteria provided, single submitter	neurofibromatosis-Noonan syndrome	germline	Detail
Pathogenic	2023-10-29	criteria provided, single submitter	juvenile myelomonocytic leukemia	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND not specified	ClinVar	Detail
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Neurofibromatosis-Noonan syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
NA	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: rs267606600 dbSNP
Genome: hg38
Position: chr17:31,219,018-31,219,019
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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