chr17:31235729:G>A Detail (hg38) (NF1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:29,562,747-29,562,747 View the variant detail on this assembly version.
hg38	chr17:31,235,729-31,235,729

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.3827G>A	NP_000258.1:p.Arg1276Gln
	NM_001042492.2:c.3827G>A	NP_001035957.1:p.Arg1276Gln
Ensemble	ENST00000356175.7:c.3827G>A	ENST00000356175.7:p.Arg1276Gln
	ENST00000358273.9:c.3827G>A	ENST00000358273.9:p.Arg1276Gln
	ENST00000691014.1:c.3857G>A	ENST00000691014.1:p.Arg1286Gln
	ENST00000696138.1:c.3872G>A	ENST00000696138.1:p.Arg1291Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM24497	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-05-10	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2024-01-09	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline inherited unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal	germline unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal	germline unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal	germline unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal	germline unknown	Detail
Pathogenic	2021-11-22	criteria provided, multiple submitters, no conflicts	juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal	germline unknown	Detail
Pathogenic	2016-01-29	criteria provided, single submitter	Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis	germline	Detail
Pathogenic	2016-01-29	criteria provided, single submitter	Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis	germline	Detail
Pathogenic	2022-12-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-07-02	criteria provided, single submitter	neurofibromatosis-Noonan syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	NA	CLINVAR		Detail
0.670	neurofibromatosis 1	More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen...	UNIPROT	10712197	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND Neurofibromatosis-Noonan syndrome	ClinVar	Detail
NA	DisGeNET	Detail
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ...	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: rs137854556 dbSNP
Genome: hg38
Position: chr17:31,235,729-31,235,729
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser