chr12:6483610:C>T Detail (hg19) (SCNN1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:6,483,610-6,483,610 |
hg38 | chr12:6,374,444-6,374,444 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001038.5:c.340G>A | NP_001029.1:p.Val114Ile |
NM_001159575.1:c.409G>A | NP_001153047.1:p.Val137Ile | |
NM_001159576.1:c.517G>A | NP_001153048.1:p.Val173Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-03-29 | criteria provided, single submitter | Bronchiectasis with or without elevated sweat chloride 2 |
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Detail |
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2019-04-02 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Bronchiectasis with or without elevated sweat chloride 2 | NA | CLINVAR | Detail | |
0.360 | Bronchiectasis with or without elevated sweat chloride 2 | Mutations in the amiloride-sensitive epithelial sodium channel in patients with ... | UNIPROT | 19462466 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) AND Bronchiectasis with or without elevated sweat chlorid... | ClinVar | Detail |
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like... | 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
- rs61759861 dbSNP
- Genome
- hg19
- Position
- chr12:6,483,610-6,483,610
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121182
- Allele Counts in All Race (ExAC)
- 11
- Heterozygous Counts in All Race (ExAC)
- 11
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.077255698040963E-5
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