chr7:140477853:C>A Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,853-140,477,853
hg38 chr7:140,778,053-140,778,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1575G>T NP_004324.2:p.Leu525Phe
Ensemble ENST00000288602.11:c.1575G>T ENST00000288602.11:p.Leu525Phe
ENST00000496384.7:c.1455G>T ENST00000496384.7:p.Leu485Phe
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 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM30728 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-02-27 reviewed by expert panel RASopathy germline Detail
Uncertain significance no assertion criteria provided Noonan syndrome unknown Detail
Pathogenic 2014-10-21 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2014-10-21 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2019-09-11 criteria provided, single submitter Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2023-01-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.360 Noonan syndrome 7 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND Noonan syndrome ClinVar Detail
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND not provided 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
rs180177036 dbSNP
Genome
hg19
Position
chr7:140,477,853-140,477,853
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser