chr3:12650394:A>G Detail (hg19) (RAF1)

Information

Genome

Assembly Position
hg19 chr3:12,650,394-12,650,394
hg38 chr3:12,608,895-12,608,895 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002880.3:c.452T>C NP_002871.1:p.Phe151Ser
Ensemble ENST00000251849.9:c.452T>C ENST00000251849.9:p.Phe151Ser
ENST00000442415.7:c.452T>C ENST00000442415.7:p.Phe151Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
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 2013-11-14 no assertion criteria provided Noonan syndrome germline Detail
Uncertain significance 2021-09-27 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.384 Noonan syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) AND Noonan syndrome ClinVar Detail
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) AND RASopathy 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
rs587782971 dbSNP
Genome
hg19
Position
chr3:12,650,394-12,650,394
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser