chr3:12645688:G>C Detail (hg19) (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
hg38	chr3:12,604,189-12,604,189 View the variant detail on this assembly version.

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.781C>G	NP_002871.1:p.Pro261Ala
Ensemble	ENST00000251849.9:c.781C>G	ENST00000251849.9:p.Pro261Ala
	ENST00000442415.7:c.781C>G	ENST00000442415.7:p.Pro261Ala
	ENST00000685437.1:c.682C>G	ENST00000685437.1:p.Pro228Ala
	ENST00000685653.1:c.781C>G	ENST00000685653.1:p.Pro261Ala
	ENST00000687923.1:c.682C>G	ENST00000687923.1:p.Pro228Ala
	ENST00000688543.1:c.682C>G	ENST00000688543.1:p.Pro228Ala
	ENST00000689389.1:c.781C>G	ENST00000689389.1:p.Pro261Ala
	ENST00000690397.1:c.682C>G	ENST00000690397.1:p.Pro228Ala
	ENST00000690460.1:c.781C>G	ENST00000690460.1:p.Pro261Ala
	ENST00000691899.1:c.781C>G	ENST00000691899.1:p.Pro261Ala
	ENST00000692093.1:c.682C>G	ENST00000692093.1:p.Pro228Ala
	ENST00000693312.1:c.556C>G	ENST00000693312.1:p.Pro186Ala

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-01-27	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2014-10-27	criteria provided, single submitter	Noonan syndrome	germline somatic	Detail
Pathogenic	2016-06-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	LEOPARD syndrome 2,Noonan syndrome 5,dilated cardiomyopathy 1NN	unknown	Detail
Pathogenic	2022-07-29	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	RAF1-related disorder	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.781C>G (p.Pro261Ala) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND multiple conditions	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND multiple conditions	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND multiple conditions	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) AND RAF1-related disorder	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: hg19
Position: chr3:12,645,688-12,645,688
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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