chr3:12585760:T>C Detail (hg38) (RAF1, MKRN2)

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

Genome

Assembly	Position
hg19	chr3:12,627,259-12,627,259 View the variant detail on this assembly version.
hg38	chr3:12,585,760-12,585,760

HGVS

MKRN2
RAF1

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000676541.1:c.*3507T>C
	ENST00000677142.1:c.*3507T>C

Type	Transcript	Protein
RefSeq	NM_002880.3:c.1457A>G	NP_002871.1:p.Asp486Gly
Ensemble	ENST00000251849.9:c.1457A>G	ENST00000251849.9:p.Asp486Gly
	ENST00000442415.7:c.1517A>G	ENST00000442415.7:p.Asp506Gly
	ENST00000685437.1:c.1358A>G	ENST00000685437.1:p.Asp453Gly
	ENST00000685653.1:c.1457A>G	ENST00000685653.1:p.Asp486Gly
	ENST00000687923.1:c.1346A>G	ENST00000687923.1:p.Asp449Gly
	ENST00000688543.1:c.1358A>G	ENST00000688543.1:p.Asp453Gly
	ENST00000689389.1:c.1280A>G	ENST00000689389.1:p.Asp427Gly
	ENST00000690397.1:c.1346A>G	ENST00000690397.1:p.Asp449Gly
	ENST00000690460.1:c.1445A>G	ENST00000690460.1:p.Asp482Gly
	ENST00000691899.1:c.1457A>G	ENST00000691899.1:p.Asp486Gly
	ENST00000692093.1:c.1358A>G	ENST00000692093.1:p.Asp453Gly
	ENST00000693312.1:c.1232A>G	ENST00000693312.1:p.Asp411Gly

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

MKRN2
RAF1

Type	Database	ID	Link
Gene	MIM	608426	OMIM
	HGNC	7113	HGNC
	Ensembl	ENSG00000075975	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-02-11	criteria provided, single submitter	Noonan syndrome	germline	Detail
Pathogenic	2023-06-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-05-28	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2024-03-26	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.1457A>G (p.Asp486Gly) AND Noonan syndrome	ClinVar	Detail
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) AND RASopathy	ClinVar	Detail
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) 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: rs397516815 dbSNP
Genome: hg38
Position: chr3:12,585,760-12,585,760
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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