chr17:29562641:C>T 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	chr17:29,562,641-29,562,641
hg38	chr17:31,235,623-31,235,623 View the variant detail on this assembly version.

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.3721C>T	NP_000258.1:p.Arg1241Ter
	NM_001042492.2:c.3721C>T	NP_001035957.1:p.Arg1241Ter
Ensemble	ENST00000691014.1:c.3751C>T	ENST00000691014.1:p.Arg1251Ter
	ENST00000356175.7:c.3721C>T	ENST00000356175.7:p.Arg1241Ter
	ENST00000358273.9:c.3721C>T	ENST00000358273.9:p.Arg1241Ter
	ENST00000696138.1:c.3766C>T	ENST00000696138.1:p.Arg1256Ter

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	COSM24441	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-27	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline paternal unknown	Detail
Pathogenic	2014-06-06	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-07-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-05-24	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
<0.001	neurofibromatosis 1	Three members of a Portuguese family, who exhibited clinical evidence of neurofi...	BeFree	12483293	Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) AND Inborn genetic diseases	ClinVar	Detail
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
NA	DisGeNET	Detail
Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (N...	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: rs137854562 dbSNP
Genome: hg19
Position: chr17:29,562,641-29,562,641
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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