chr7:117251704:G>C Detail (hg19) (CFTR, LOC111674472)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:117,251,704-117,251,704 |
| hg38 | chr7:117,611,650-117,611,650 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000492.3:c.3209G>C | NP_000483.3:p.Arg1070Pro |
| Ensemble | ENST00000003084.11:c.3209G>C | ENST00000003084.11:p.Arg1070Pro |
| ENST00000648260.1:c.1991G>C | ENST00000648260.1:p.Arg664Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2022-06-06 | criteria provided, single submitter | cystic fibrosis |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) AND Cystic fibrosis | 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
- rs78769542 dbSNP
- Genome
- hg19
- Position
- chr7:117,251,704-117,251,704
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser