chr7:140477853:C>A Detail (hg19) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,477,853-140,477,853 |
hg38 | chr7:140,778,053-140,778,053 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1575G>T | NP_004324.2:p.Leu525Phe |
Ensemble | ENST00000288602.11:c.1575G>T | ENST00000288602.11:p.Leu525Phe |
ENST00000496384.7:c.1455G>T | ENST00000496384.7:p.Leu485Phe |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-02-27 | reviewed by expert panel | RASopathy |
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Detail |
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no assertion criteria provided | Noonan syndrome |
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Detail | |
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2014-10-21 | criteria provided, single submitter | Noonan syndrome,Cardio-facio-cutaneous syndrome |
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Detail |
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2014-10-21 | criteria provided, single submitter | Noonan syndrome,Cardio-facio-cutaneous syndrome |
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Detail |
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2019-09-11 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
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Detail |
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2023-01-23 | criteria provided, single submitter | not provided |
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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 | |
0.360 | Noonan syndrome 7 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND RASopathy | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND Noonan syndrome | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND multiple conditions | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND multiple conditions | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) AND not provided | ClinVar | Detail |
NA | DisGeNET | 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
- rs180177036 dbSNP
- Genome
- hg19
- Position
- chr7:140,477,853-140,477,853
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser