chr3:12608823:T>C Detail (hg38) (RAF1)

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

Genome

Assembly	Position
hg19	chr3:12,650,322-12,650,322 View the variant detail on this assembly version.
hg38	chr3:12,608,823-12,608,823

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.524A>G	NP_002871.1:p.His175Arg
Ensemble	ENST00000251849.9:c.524A>G	ENST00000251849.9:p.His175Arg
	ENST00000442415.7:c.524A>G	ENST00000442415.7:p.His175Arg
	ENST00000685437.1:c.524A>G	ENST00000685437.1:p.His175Arg
	ENST00000685653.1:c.524A>G	ENST00000685653.1:p.His175Arg
	ENST00000687923.1:c.524A>G	ENST00000687923.1:p.His175Arg
	ENST00000688543.1:c.524A>G	ENST00000688543.1:p.His175Arg
	ENST00000689226.1:c.524A>G	ENST00000689226.1:p.His175Arg
	ENST00000689389.1:c.524A>G	ENST00000689389.1:p.His175Arg
	ENST00000690397.1:c.524A>G	ENST00000690397.1:p.His175Arg
	ENST00000690460.1:c.524A>G	ENST00000690460.1:p.His175Arg
	ENST00000691899.1:c.524A>G	ENST00000691899.1:p.His175Arg
	ENST00000692093.1:c.524A>G	ENST00000692093.1:p.His175Arg
	ENST00000693312.1:c.299A>G	ENST00000693312.1:p.His100Arg

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
Show details

Links

RAF1

Type	Database	ID	Link
Gene	MIM	164760	OMIM
	HGNC	9829	HGNC
	Ensembl	ENSG00000132155	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6946528	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-05-23	criteria provided, single submitter	Noonan syndrome	de novo germline	Detail
Pathogenic	2023-10-16	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2022-07-26	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2020-05-29	criteria provided, single submitter	Noonan syndrome 5	de novo	Detail
Likely pathogenic	2023-09-14	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 5	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002880.4(RAF1):c.524A>G (p.His175Arg) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.524A>G (p.His175Arg) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.524A>G (p.His175Arg) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.524A>G (p.His175Arg) AND Noonan syndrome 5	ClinVar	Detail
NM_002880.4(RAF1):c.524A>G (p.His175Arg) AND Cardiovascular phenotype	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: rs397516822 dbSNP
Genome: hg38
Position: chr3:12,608,823-12,608,823
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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