chr17:31226592:G>A 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	chr17:29,553,610-29,553,610 View the variant detail on this assembly version.
hg38	chr17:31,226,592-31,226,592

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_000267.3:c.2159G>A	NP_000258.1:p.Arg720Gln
	NM_001042492.2:c.2159G>A	NP_001035957.1:p.Arg720Gln
Ensemble	ENST00000356175.7:c.2159G>A	ENST00000356175.7:p.Arg720Gln
	ENST00000358273.9:c.2159G>A	ENST00000358273.9:p.Arg720Gln
	ENST00000691014.1:c.2189G>A	ENST00000691014.1:p.Arg730Gln
	ENST00000696138.1:c.2204G>A	ENST00000696138.1:p.Arg735Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6724960	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-08-15	criteria provided, multiple submitters, no conflicts	Neurofibromatosis, type 1	germline	Detail
not provided		no assertion provided	Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis	unknown	Detail
not provided		no assertion provided	Neurofibromatosis, type 1,Café-au-lait macules with pulmonary stenosis	unknown	Detail
Uncertain significance	2022-10-26	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2021-04-02	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-05-18	criteria provided, single submitter	juvenile myelomonocytic leukemia	unknown	Detail
Uncertain significance	2023-11-01	criteria provided, single submitter	NF1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND Neurofibromatosis, type 1	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND multiple conditions	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) AND NF1-related disorder	ClinVar	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: rs1350468182 dbSNP
Genome: hg38
Position: chr17:31,226,592-31,226,592
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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