chr17:29546090:T>C 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	chr17:29,546,090-29,546,090
hg38	chr17:31,219,072-31,219,072 View the variant detail on this assembly version.

HGVS

NF1

Type	Transcript	Protein
RefSeq	NM_001128147.2:c.1595T>C	NP_001121619.1:p.Leu532Pro
	NM_000267.3:c.1595T>C	NP_000258.1:p.Leu532Pro
	NM_001042492.2:c.1595T>C	NP_001035957.1:p.Leu532Pro
Ensemble	ENST00000431387.8:c.1595T>C	ENST00000431387.8:p.Leu532Pro
	ENST00000487476.5:c.1595T>C	ENST00000487476.5:p.Leu532Pro
	ENST00000691014.1:c.1625T>C	ENST00000691014.1:p.Leu542Pro
	ENST00000356175.7:c.1595T>C	ENST00000356175.7:p.Leu532Pro
	ENST00000696138.1:c.1640T>C	ENST00000696138.1:p.Leu547Pro
	ENST00000358273.9:c.1595T>C	ENST00000358273.9:p.Leu532Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail
Conflicting interpretations of pathogenicity	2023-04-12	criteria provided, conflicting interpretations	Neurofibromatosis, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.670	neurofibromatosis 1	NA	CLINVAR		Detail
0.670	neurofibromatosis 1	Automated comparative sequence analysis identifies mutations in 89% of NF1 patie...	UNIPROT	15060124	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) AND not provided	ClinVar	Detail
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) AND Neurofibromatosis, type 1	ClinVar	Detail
NA	DisGeNET	Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m...	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: rs199474737 dbSNP
Genome: hg19
Position: chr17:29,546,090-29,546,090
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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