chr3:12604188: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	chr3:12,645,687-12,645,687 View the variant detail on this assembly version.
hg38	chr3:12,604,188-12,604,188

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.782C>T	NP_002871.1:p.Pro261Leu
Ensemble	ENST00000251849.9:c.782C>T	ENST00000251849.9:p.Pro261Leu
	ENST00000442415.7:c.782C>T	ENST00000442415.7:p.Pro261Leu
	ENST00000685437.1:c.683C>T	ENST00000685437.1:p.Pro228Leu
	ENST00000685653.1:c.782C>T	ENST00000685653.1:p.Pro261Leu
	ENST00000687923.1:c.683C>T	ENST00000687923.1:p.Pro228Leu
	ENST00000688543.1:c.683C>T	ENST00000688543.1:p.Pro228Leu
	ENST00000689389.1:c.782C>T	ENST00000689389.1:p.Pro261Leu
	ENST00000690397.1:c.683C>T	ENST00000690397.1:p.Pro228Leu
	ENST00000690460.1:c.782C>T	ENST00000690460.1:p.Pro261Leu
	ENST00000691899.1:c.782C>T	ENST00000691899.1:p.Pro261Leu
	ENST00000692093.1:c.683C>T	ENST00000692093.1:p.Pro228Leu
	ENST00000693312.1:c.557C>T	ENST00000693312.1:p.Pro186Leu

Summary

MGeND

Clinical significance
Variant entry
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	COSM5398076	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	Noonan syndrome 5	germline	Detail
Pathogenic	2013-11-19	criteria provided, single submitter	Noonan syndrome	germline somatic	Detail
Pathogenic	2017-08-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-11-17	criteria provided, single submitter	RASopathy	germline	Detail
Likely pathogenic		criteria provided, single submitter	dilated cardiomyopathy 1NN	germline	Detail
Pathogenic	2023-10-03	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.782C>T (p.Pro261Leu) AND Noonan syndrome 5	ClinVar	Detail
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) AND Dilated cardiomyopathy 1NN	ClinVar	Detail
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) 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: rs397516828 dbSNP
Genome: hg38
Position: chr3:12,604,188-12,604,188
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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