chr17:31330468:G>T Detail (hg38) (NF1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:29,657,486-29,657,486 View the variant detail on this assembly version.
hg38	chr17:31,330,468-31,330,468

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.5719G>T	NP_000258.1:p.Glu1907Ter
	NM_001042492.2:c.5782G>T	NP_001035957.1:p.Glu1928Ter
Ensemble	ENST00000356175.7:c.5719G>T	ENST00000356175.7:p.Glu1907Ter
	ENST00000358273.9:c.5782G>T	ENST00000358273.9:p.Glu1928Ter
	ENST00000684826.1:c.346G>T	ENST00000684826.1:p.Glu116Ter
	ENST00000687027.1:c.-63G>T
	ENST00000691014.1:c.5812G>T	ENST00000691014.1:p.Glu1938Ter
	ENST00000693617.1:c.346G>T	ENST00000693617.1:p.Glu116Ter
	ENST00000696138.1:c.5764G>T	ENST00000696138.1:p.Glu1922Ter

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-12-30	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome	unknown	Detail
Pathogenic	2022-06-17	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) AND Neurofibromatosis, type 1	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: rs786203896 dbSNP
Genome: hg38
Position: chr17:31,330,468-31,330,468
Variant Type: snv
Reference Allele: G
Alternative Allele: T

Genome browser