chr3:12604195:A>G 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	chr3:12,645,694-12,645,694 View the variant detail on this assembly version.
hg38	chr3:12,604,195-12,604,195

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.775T>C	NP_002871.1:p.Ser259Pro
Ensemble	ENST00000693312.1:c.550T>C	ENST00000693312.1:p.Ser184Pro
	ENST00000251849.9:c.775T>C	ENST00000251849.9:p.Ser259Pro
	ENST00000442415.7:c.775T>C	ENST00000442415.7:p.Ser259Pro
	ENST00000685437.1:c.676T>C	ENST00000685437.1:p.Ser226Pro
	ENST00000685653.1:c.775T>C	ENST00000685653.1:p.Ser259Pro
	ENST00000687923.1:c.676T>C	ENST00000687923.1:p.Ser226Pro
	ENST00000688543.1:c.676T>C	ENST00000688543.1:p.Ser226Pro
	ENST00000689389.1:c.775T>C	ENST00000689389.1:p.Ser259Pro
	ENST00000690397.1:c.676T>C	ENST00000690397.1:p.Ser226Pro
	ENST00000690460.1:c.775T>C	ENST00000690460.1:p.Ser259Pro
	ENST00000691899.1:c.775T>C	ENST00000691899.1:p.Ser259Pro
	ENST00000692093.1:c.676T>C	ENST00000692093.1:p.Ser226Pro

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
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	COSM3737621	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-10-08	criteria provided, single submitter	Noonan syndrome	de novo germline	Detail
Pathogenic Likely pathogenic	2021-03-31	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 5	NA	CLINVAR		Detail
0.384	Noonan syndrome	Excessive production of lymphatic ECs resulted in lymphangiectasia that was high...	BeFree	23391722	Detail
<0.001	Lymphangiectasis	Excessive production of lymphatic ECs resulted in lymphangiectasia that was high...	BeFree	23391722	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) AND RASopathy	ClinVar	Detail
NA	DisGeNET	Detail
Excessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of ab...	DisGeNET	Detail
Excessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of ab...	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: rs3730271 dbSNP
Genome: hg38
Position: chr3:12,604,195-12,604,195
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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