chr3:12604189:G>A 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	chr3:12,645,688-12,645,688 View the variant detail on this assembly version.
hg38	chr3:12,604,189-12,604,189

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.781C>T	NP_002871.1:p.Pro261Ser
Ensemble	ENST00000691899.1:c.781C>T	ENST00000691899.1:p.Pro261Ser
	ENST00000692093.1:c.682C>T	ENST00000692093.1:p.Pro228Ser
	ENST00000693312.1:c.556C>T	ENST00000693312.1:p.Pro186Ser
	ENST00000251849.9:c.781C>T	ENST00000251849.9:p.Pro261Ser
	ENST00000442415.7:c.781C>T	ENST00000442415.7:p.Pro261Ser
	ENST00000685437.1:c.682C>T	ENST00000685437.1:p.Pro228Ser
	ENST00000685653.1:c.781C>T	ENST00000685653.1:p.Pro261Ser
	ENST00000687923.1:c.682C>T	ENST00000687923.1:p.Pro228Ser
	ENST00000688543.1:c.682C>T	ENST00000688543.1:p.Pro228Ser
	ENST00000689389.1:c.781C>T	ENST00000689389.1:p.Pro261Ser
	ENST00000690397.1:c.682C>T	ENST00000690397.1:p.Pro228Ser
	ENST00000690460.1:c.781C>T	ENST00000690460.1:p.Pro261Ser

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM4991828	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-05-07	criteria provided, single submitter	Noonan syndrome 5	de novo germline	Detail
Pathogenic	2023-03-14	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2015-09-14	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2017-04-03	reviewed by expert panel	Noonan syndrome	germline somatic	Detail
Pathogenic	2024-01-24	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2022-06-02	criteria provided, single submitter		germline	Detail
Pathogenic	2016-04-12	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2020-06-01	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Noonan syndrome 1	de novo	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.781C>T (p.Pro261Ser) AND Noonan syndrome 5	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Cardiovascular phenotype	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Inborn genetic diseases	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) AND Noonan syndrome 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: rs121434594 dbSNP
Genome: hg38
Position: chr3:12,604,189-12,604,189
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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