chr7:140749365:A>T Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,449,165-140,449,165 View the variant detail on this assembly version.
hg38 chr7:140,749,365-140,749,365

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.2034T>A NP_004324.2:p.Asp678Glu
Ensemble ENST00000288602.11:c.2034T>A ENST00000288602.11:p.Asp678Glu
ENST00000496384.7:c.1914T>A ENST00000496384.7:p.Asp638Glu
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
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-05-16 criteria provided, multiple submitters, no conflicts cardiofaciocutaneous syndrome 1 de novo germline Detail
Pathogenic 2023-06-08 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-09-01 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 1,lung carcinoma,Noonan syndrome 7 unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 1,lung carcinoma,Noonan syndrome 7 unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 1,lung carcinoma,Noonan syndrome 7 unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 1,lung carcinoma,Noonan syndrome 7 unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 1,lung carcinoma,Noonan syndrome 7 unknown Detail
Pathogenic 2021-06-16 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND Inborn genetic diseases ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) 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
rs180177042 dbSNP
Genome
hg38
Position
chr7:140,749,365-140,749,365
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser