chr7:117292931:C>G Detail (hg19) (CFTR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:117,292,931-117,292,931 |
hg38 | chr7:117,652,877-117,652,877 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000492.3:c.3909C>G | NP_000483.3:p.Asn1303Lys |
Ensemble | ENST00000003084.11:c.3909C>G | ENST00000003084.11:p.Asn1303Lys |
ENST00000649781.2:c.3726C>G | ENST00000649781.2:p.Asn1242Lys |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2004-03-03 | practice guideline | cystic fibrosis |
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Detail |
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2023-10-26 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation |
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Detail | |
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criteria provided, single submitter | cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation |
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Detail | |
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2023-12-13 | criteria provided, single submitter | CFTR-related disorder |
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Detail |
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2021-05-25 | criteria provided, single submitter | Hereditary pancreatitis |
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Detail |
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2018-06-07 | criteria provided, single submitter | Spermatogenic failure, Y-linked, 2 |
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Detail |
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2023-10-12 | criteria provided, single submitter | Bronchiectasis with or without elevated sweat chloride 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.800 | cystic fibrosis | NA | CLINVAR | Detail | |
0.800 | cystic fibrosis | The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified wer... | BeFree | 11883825 | Detail |
0.800 | cystic fibrosis | We report a newborn presenting with bilateral pneumothorax whose diagnosis was c... | BeFree | 20865572 | Detail |
<0.001 | Gastrointestinal symptom | The clinical features of the 6 year old were characterised by severe gastrointes... | BeFree | 1283148 | Detail |
0.800 | cystic fibrosis | More than 120 known cystic fibrosis transmembrane conductance regulator (CFTR) d... | UNIPROT | 9401006 | Detail |
0.004 | Pancreatic Insufficiency | An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alk... | BeFree | 15357568 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND Cystic fibrosis | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND not provided | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND multiple conditions | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND multiple conditions | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND CFTR-related disorder | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND Hereditary pancreatitis | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND Spermatogenic failure, Y-linked, 2 | ClinVar | Detail |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) AND Bronchiectasis with or without elevated sweat chlorid... | ClinVar | Detail |
NA | DisGeNET | Detail |
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R... | DisGeNET | Detail |
We report a newborn presenting with bilateral pneumothorax whose diagnosis was cystic fibrosis with ... | DisGeNET | Detail |
The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet onl... | DisGeNET | Detail |
More than 120 known cystic fibrosis transmembrane conductance regulator (CFTR) disease-causing mutat... | DisGeNET | Detail |
An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs80034486 dbSNP
- Genome
- hg19
- Position
- chr7:117,292,931-117,292,931
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8576
- 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)
- 120304
- Allele Counts in All Race (ExAC)
- 18
- Heterozygous Counts in All Race (ExAC)
- 18
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.4962096023407367E-4
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