chr7:117642528:G>T Detail (hg38) (CFTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:117,282,582-117,282,582 View the variant detail on this assembly version. |
| hg38 | chr7:117,642,528-117,642,528 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000492.3:c.3808G>T | NP_000483.3:p.Asp1270Tyr |
| Ensemble | ENST00000003084.11:c.3808G>T | ENST00000003084.11:p.Asp1270Tyr |
| ENST00000649781.2:c.3625G>T | ENST00000649781.2:p.Asp1209Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail |
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 | |
| 0.121 | Hereditary pancreatitis | NA | CLINVAR | Detail | |
| 0.509 | Congenital bilateral aplasia of vas deferens | We found that R74W cystic fibrosis transmembrane conductance regulator appears t... | BeFree | 10386624 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000492.4(CFTR):c.3808G>T (p.Asp1270Tyr) AND ivacaftor response - Efficacy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism,... | 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
- rs11971167 dbSNP
- Genome
- hg38
- Position
- chr7:117,642,528-117,642,528
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser