chr7:117188797:A>G Detail (hg19) (CFTR, CFTR-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:117,188,797-117,188,797 |
| hg38 | chr7:117,548,743-117,548,743 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000492.3:c.1312A>G | NP_000483.3:p.Thr438Ala |
| Ensemble | ENST00000699596.1:c.1312A>G | ENST00000699596.1:p.Thr438Ala |
| ENST00000699597.1:c.1312A>G | ENST00000699597.1:p.Thr438Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.122 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | CFTR-related disorder |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2018-08-31 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
|
Uncertain significance
|
2021-07-22 | criteria provided, single submitter | cystic fibrosis |
germline
|
Detail |
Benign
|
2021-07-22 | criteria provided, single submitter | Hereditary pancreatitis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND CFTR-related disorder | ClinVar | Detail |
| NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND not provided | ClinVar | Detail |
| NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND Cystic fibrosis | ClinVar | Detail |
| NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND Hereditary pancreatitis | ClinVar | 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
- rs201434579 dbSNP
- Genome
- hg19
- Position
- chr7:117,188,797-117,188,797
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- LowQual
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 234
- Mean of sample read depth (HGVD)
- 12.79
- Standard deviation of sample read depth (HGVD)
- 25.28
- Number of reference allele (HGVD)
- 411
- Number of alternative allele (HGVD)
- 57
- Allele Frequency (HGVD)
- 0.12179487179487179
- Gene Symbol (HGVD)
- CFTR
- East Asian Chromosome Counts (ExAC)
- 6750
- East Asian Allele Counts (ExAC)
- 15
- East Asian Heterozygous Counts (ExAC)
- 15
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0022222222222222222
- Chromosome Counts in All Race (ExAC)
- 90284
- Allele Counts in All Race (ExAC)
- 212
- Heterozygous Counts in All Race (ExAC)
- 212
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.002348145850870586
Genome browser