chr17:29586057:A>G Detail (hg19) (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	chr17:29,586,057-29,586,057
hg38	chr17:31,259,039-31,259,039 View the variant detail on this assembly version.

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.4277A>G	NP_000258.1:p.Gln1426Arg
	NM_001042492.2:c.4340A>G	NP_001035957.1:p.Gln1447Arg
Ensemble	ENST00000356175.7:c.4277A>G	ENST00000356175.7:p.Gln1426Arg
	ENST00000358273.9:c.4340A>G	ENST00000358273.9:p.Gln1447Arg
	ENST00000691014.1:c.4370A>G	ENST00000691014.1:p.Gln1457Arg
	ENST00000696138.1:c.4322A>G	ENST00000696138.1:p.Gln1441Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	2
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-19	criteria provided, single submitter	Neurofibromatosis, type 1	germline	Detail
Pathogenic	2022-11-15	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

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) AND Juvenile myelomonocytic leukemia	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: rs786204157 dbSNP
Genome: hg19
Position: chr17:29,586,057-29,586,057
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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