chr7:140753333:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,133-140,453,133 View the variant detail on this assembly version.
hg38 chr7:140,753,333-140,753,333

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1922A>C NP_004324.2:p.Lys641Thr
Ensemble ENST00000288602.11:c.1922A>C ENST00000288602.11:p.Lys641Thr
ENST00000496384.7:c.1802A>C ENST00000496384.7:p.Lys601Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM3878760 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000178) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-07-16 no assertion criteria provided Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2014-07-16 no assertion criteria provided Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Thyroid tumor somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
not provided no assertion provided cardiofaciocutaneous syndrome 1 unknown Detail
Pathogenic 2023-08-04 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Noonan syndrome 7 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Gastric adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Thyroid tumor ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) 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
rs397507484 dbSNP
Genome
hg38
Position
chr7:140,753,333-140,753,333
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser