chr7:117590400:G>T Detail (hg38) (CFTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:117,230,454-117,230,454 View the variant detail on this assembly version. |
| hg38 | chr7:117,590,400-117,590,400 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000492.3:c.1727G>T | NP_000483.3:p.Gly576Val |
| Ensemble | ENST00000003084.11:c.1727G>T | ENST00000003084.11:p.Gly576Val |
| ENST00000648260.1:c.1402-12426G>T |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.509 | Congenital bilateral aplasia of vas deferens | NA | CLINVAR | Detail | |
| 0.800 | cystic fibrosis | NA | CLINVAR | Detail |
Annotation
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
- -
- Genome
- hg38
- Position
- chr7:117,590,400-117,590,400
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8608
- 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)
- 120564
- 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)
- 8.294349888855711E-6
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