chr7:140801542:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,501,342-140,501,342 View the variant detail on this assembly version.
hg38 chr7:140,801,542-140,801,542

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.730A>C NP_004324.2:p.Thr244Pro
Ensemble ENST00000288602.11:c.730A>C ENST00000288602.11:p.Thr244Pro
ENST00000496384.7:c.730A>C ENST00000496384.7:p.Thr244Pro
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-09 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-04-03 reviewed by expert panel Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2019-07-31 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.730A>C (p.Thr244Pro) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) 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
rs397507465 dbSNP
Genome
hg38
Position
chr7:140,801,542-140,801,542
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser