chr7:140477861:T>G Detail (hg19) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,477,861-140,477,861 |
hg38 | chr7:140,778,061-140,778,061 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1567A>C | NP_004324.2:p.Lys523Gln |
Ensemble | ENST00000496384.7:c.1447A>C | ENST00000496384.7:p.Lys483Gln |
ENST00000288602.11:c.1567A>C | ENST00000288602.11:p.Lys523Gln |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
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.1447A>C (p.Lys483Gln) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) 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
- rs397507474 dbSNP
- Genome
- hg19
- Position
- chr7:140,477,861-140,477,861
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser