chr17:29654737:G>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	chr17:29,654,737-29,654,737
hg38	chr17:31,327,719-31,327,719 View the variant detail on this assembly version.

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.5426G>T	NP_000258.1:p.Arg1809Leu
	NM_001042492.2:c.5489G>T	NP_001035957.1:p.Arg1830Leu
Ensemble	ENST00000356175.7:c.5426G>T	ENST00000356175.7:p.Arg1809Leu
	ENST00000358273.9:c.5489G>T	ENST00000358273.9:p.Arg1830Leu
	ENST00000684826.1:c.53G>T	ENST00000684826.1:p.Arg18Leu
	ENST00000687027.1:c.-236+1467G>T
	ENST00000691014.1:c.5519G>T	ENST00000691014.1:p.Arg1840Leu
	ENST00000693617.1:c.53G>T	ENST00000693617.1:p.Arg18Leu
	ENST00000696138.1:c.5471G>T	ENST00000696138.1:p.Arg1824Leu

Summary

MGeND

Clinical significance	not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	COSM6930811	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	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 Likely pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	de novo germline unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, type 1,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2023-10-26	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-10-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	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.5489G>T (p.Arg1830Leu) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions	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: rs771529172 dbSNP
Genome: hg19
Position: chr17:29,654,737-29,654,737
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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