chr7:140481405:A>G Detail (hg19) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,481,405-140,481,405 |
hg38 | chr7:140,781,605-140,781,605 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1523T>C | NP_004324.2:p.Phe508Ser |
Ensemble | ENST00000288602.11:c.1523T>C | ENST00000288602.11:p.Phe508Ser |
ENST00000496384.7:c.1403T>C | ENST00000496384.7:p.Phe468Ser |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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cardiofaciocutaneous syndrome |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-06-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2009-06-02 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
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Detail |
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2021-12-01 | criteria provided, single submitter | RASopathy |
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Detail |
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2021-02-19 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1 |
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Detail |
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2019-04-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
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Detail |
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2019-11-29 | criteria provided, single submitter |
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Detail | |
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2023-02-24 | criteria provided, single submitter | BRAF-related disorder |
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Detail |
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_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND not provided | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND RASopathy | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND See cases | ClinVar | Detail |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND BRAF-related disorder | 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
- rs397507473 dbSNP
- Genome
- hg19
- Position
- chr7:140,481,405-140,481,405
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121390
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237910865804433E-6
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