chr3:12627244:G>C Detail (hg19) (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	chr3:12,627,244-12,627,244
hg38	chr3:12,585,745-12,585,745 View the variant detail on this assembly version.

HGVS

MKRN2
RAF1

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000676541.1:c.*3492G>C
	ENST00000677142.1:c.*3492G>C

Type	Transcript	Protein
RefSeq	NM_002880.3:c.1472C>G	NP_002871.1:p.Thr491Arg
Ensemble	ENST00000251849.9:c.1472C>G	ENST00000251849.9:p.Thr491Arg
	ENST00000442415.7:c.1532C>G	ENST00000442415.7:p.Thr511Arg
	ENST00000685437.1:c.1373C>G	ENST00000685437.1:p.Thr458Arg
	ENST00000685653.1:c.1472C>G	ENST00000685653.1:p.Thr491Arg
	ENST00000687923.1:c.1361C>G	ENST00000687923.1:p.Thr454Arg
	ENST00000688543.1:c.1373C>G	ENST00000688543.1:p.Thr458Arg
	ENST00000689389.1:c.1295C>G	ENST00000689389.1:p.Thr432Arg
	ENST00000690397.1:c.1361C>G	ENST00000690397.1:p.Thr454Arg
	ENST00000690460.1:c.1460C>G	ENST00000690460.1:p.Thr487Arg
	ENST00000691899.1:c.1472C>G	ENST00000691899.1:p.Thr491Arg
	ENST00000692093.1:c.1373C>G	ENST00000692093.1:p.Thr458Arg
	ENST00000693312.1:c.1247C>G	ENST00000693312.1:p.Thr416Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2007-08-01	no assertion criteria provided	Noonan syndrome 5	germline	Detail
Likely pathogenic	2018-06-18	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-11-29	criteria provided, single submitter	RASopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 5	NA	CLINVAR		Detail
0.369	LEOPARD Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) AND Noonan syndrome 5	ClinVar	Detail
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) AND not provided	ClinVar	Detail
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) AND RASopathy	ClinVar	Detail
NA	DisGeNET	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: rs80338799 dbSNP
Genome: hg19
Position: chr3:12,627,244-12,627,244
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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