chr7:140781599:G>C Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,399-140,481,399 View the variant detail on this assembly version.
hg38 chr7:140,781,599-140,781,599

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1529C>G NP_004324.2:p.Thr510Arg
Ensemble ENST00000288602.11:c.1529C>G ENST00000288602.11:p.Thr510Arg
ENST00000496384.7:c.1409C>G ENST00000496384.7:p.Thr470Arg
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 2012-02-02 criteria provided, single submitter Noonan syndrome germline unknown Detail
Likely pathogenic 2018-07-20 criteria provided, single submitter not provided 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_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) AND Noonan syndrome ClinVar Detail
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) AND not provided 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
rs397516891 dbSNP
Genome
hg38
Position
chr7:140,781,599-140,781,599
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser