chr17:31338739:C>G Detail (hg38) (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	chr17:29,665,757-29,665,757 View the variant detail on this assembly version.
hg38	chr17:31,338,739-31,338,739

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.6792C>G	NP_000258.1:p.Tyr2264Ter
	NM_001042492.2:c.6855C>G	NP_001035957.1:p.Tyr2285Ter
Ensemble	ENST00000356175.7:c.6792C>G	ENST00000356175.7:p.Tyr2264Ter
	ENST00000358273.9:c.6855C>G	ENST00000358273.9:p.Tyr2285Ter
	ENST00000684826.1:c.1419C>G	ENST00000684826.1:p.Tyr473Ter
	ENST00000687027.1:c.1011C>G	ENST00000687027.1:p.Tyr337Ter
	ENST00000691014.1:c.6885C>G	ENST00000691014.1:p.Tyr2295Ter
	ENST00000693617.1:c.1419C>G	ENST00000693617.1:p.Tyr473Ter
	ENST00000696138.1:c.6837C>G	ENST00000696138.1:p.Tyr2279Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	COSM33675	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-11-02	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline	Detail
Pathogenic	2021-12-13	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
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) AND multiple conditions	ClinVar	Detail
NA	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: rs772295894 dbSNP
Genome: hg38
Position: chr17:31,338,739-31,338,739
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121192
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.251369727374745E-6

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