chr3:12604184:A>T Detail (hg38) (RAF1)

Information

Genome

Assembly Position
hg19 chr3:12,645,683-12,645,683 View the variant detail on this assembly version.
hg38 chr3:12,604,184-12,604,184

HGVS

Type Transcript Protein
RefSeq NM_002880.3:c.786T>A NP_002871.1:p.Asn262Lys
Ensemble ENST00000251849.9:c.786T>A ENST00000251849.9:p.Asn262Lys
ENST00000442415.7:c.786T>A ENST00000442415.7:p.Asn262Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM6942918 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-09-24 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2019-05-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Noonan syndrome 5 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) AND Noonan syndrome ClinVar Detail
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) AND not provided 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
rs397516829 dbSNP
Genome
hg38
Position
chr3:12,604,184-12,604,184
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser