chr7:117664780:G>C Detail (hg38) (CFTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:117,304,834-117,304,834 View the variant detail on this assembly version. |
| hg38 | chr7:117,664,780-117,664,780 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000492.3:c.4056G>C | NP_000483.3:p.Gln1352His |
| Ensemble | ENST00000003084.11:c.4056G>C | ENST00000003084.11:p.Gln1352His |
| ENST00000649781.2:c.3873G>C | ENST00000649781.2:p.Gln1291His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.025 |
| ToMMo:0.022 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.013 |
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 |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2024-01-31 | criteria provided, conflicting interpretations | cystic fibrosis |
germline
unknown
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2023-05-09 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2024-01-18 | criteria provided, conflicting interpretations | CFTR-related disorder |
germline
|
Detail |
Uncertain significance
|
2023-12-04 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.509 | Congenital bilateral aplasia of vas deferens | NA | CLINVAR | Detail | |
| 0.018 | Pancreatitis, Alcoholic | This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... | BeFree | 16187186 | Detail |
| 0.800 | cystic fibrosis | NA | CLINVAR | Detail | |
| 0.021 | Pancreatitis, Alcoholic | This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... | BeFree | 16187186 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) AND Cystic fibrosis | ClinVar | Detail |
| NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) AND not provided | ClinVar | Detail |
| NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) AND CFTR-related disorder | ClinVar | Detail |
| NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) AND not specified | ClinVar | Detail |
| NA | DisGeNET | Detail |
| This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... | 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
- rs113857788 dbSNP
- Genome
- hg38
- Position
- chr7:117,664,780-117,664,780
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1201
- Mean of sample read depth (HGVD)
- 41.66
- Standard deviation of sample read depth (HGVD)
- 23.32
- Number of reference allele (HGVD)
- 2343
- Number of alternative allele (HGVD)
- 59
- Allele Frequency (HGVD)
- 0.024562864279766863
- Gene Symbol (HGVD)
- CFTR
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs113857788
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0222
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 372
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 116
- East Asian Heterozygous Counts (ExAC)
- 108
- East Asian Homozygous Counts (ExAC)
- 4
- East Asian Allele Frequency (ExAC)
- 0.013425925925925926
- Chromosome Counts in All Race (ExAC)
- 121348
- Allele Counts in All Race (ExAC)
- 117
- Heterozygous Counts in All Race (ExAC)
- 109
- Homozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 9.641691663645054E-4
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