chr7:140778059:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,859-140,477,859 View the variant detail on this assembly version.
hg38 chr7:140,778,059-140,778,059

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1569A>C NP_004324.2:p.Lys523Asn
Ensemble ENST00000288602.11:c.1569A>C ENST00000288602.11:p.Lys523Asn
ENST00000496384.7:c.1449A>C ENST00000496384.7:p.Lys483Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
Likely pathogenic 2018-02-15 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome germline Detail
Likely pathogenic 2018-02-15 criteria provided, single submitter Cardio-facio-cutaneous syndrome,Noonan syndrome 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.1449A>C (p.Lys483Asn) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) AND multiple conditions 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
rs727504375 dbSNP
Genome
hg38
Position
chr7:140,778,059-140,778,059
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser