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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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