chr3:12604204:T>C Detail (hg38) (RAF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:12,645,703-12,645,703 View the variant detail on this assembly version. |
hg38 | chr3:12,604,204-12,604,204 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002880.3:c.766A>G | NP_002871.1:p.Arg256Gly |
Ensemble | ENST00000251849.9:c.766A>G | ENST00000251849.9:p.Arg256Gly |
ENST00000442415.7:c.766A>G | ENST00000442415.7:p.Arg256Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-05-10 | criteria provided, single submitter | Noonan syndrome |
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Detail |
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2023-04-27 | criteria provided, single submitter | RASopathy |
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Detail |
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2022-01-13 | criteria provided, single submitter | not provided |
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Detail |
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no assertion criteria provided | Noonan syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | Noonan syndrome 5 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) AND Noonan syndrome | ClinVar | Detail |
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) AND RASopathy | ClinVar | Detail |
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) AND not provided | ClinVar | Detail |
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) AND Noonan syndrome 1 | 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
- rs397516825 dbSNP
- Genome
- hg38
- Position
- chr3:12,604,204-12,604,204
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser