chr7:140454008:G>A Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,454,008-140,454,008
hg38 chr7:140,754,208-140,754,208 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1840C>T NP_004324.2:p.His614Tyr
Ensemble ENST00000288602.11:c.1840C>T ENST00000288602.11:p.His614Tyr
ENST00000496384.7:c.1720C>T ENST00000496384.7:p.His574Tyr
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 COSM6912607 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-04-02 criteria provided, single submitter Cardio-facio-cutaneous syndrome germline Detail
not provided no assertion provided not provided unknown 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.1720C>T (p.His574Tyr) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) 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
rs397516894 dbSNP
Genome
hg19
Position
chr7:140,454,008-140,454,008
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser