chr7:117610521:G>C Detail (hg38) (CFTR, LOC111674472)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:117,250,575-117,250,575 View the variant detail on this assembly version. |
hg38 | chr7:117,610,521-117,610,521 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000492.3:c.2991G>C | NP_000483.3:p.Leu997Phe |
Ensemble | ENST00000003084.11:c.2991G>C | ENST00000003084.11:p.Leu997Phe |
ENST00000648260.1:c.1773G>C | ENST00000648260.1:p.Leu591Phe |
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 | 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 |
---|---|---|---|---|---|
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2001-01-01 | no assertion criteria provided | Pancreatitis, idiopathic, susceptibility to |
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Detail |
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2001-01-01 | no assertion criteria provided | Hypertrypsinemia, neonatal, susceptibility to |
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Detail |
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2024-02-01 | criteria provided, conflicting interpretations | cystic fibrosis |
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Detail |
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2024-04-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2020-11-12 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2015-09-15 | no assertion criteria provided | pancreatitis |
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Detail |
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2022-10-27 | criteria provided, conflicting interpretations | CFTR-related disorder |
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Detail |
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no assertion criteria provided | Infertility disorder |
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Detail | |
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2022-03-16 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.800 | cystic fibrosis | NA | CLINVAR | Detail | |
0.121 | Hereditary pancreatitis | NA | CLINVAR | Detail | |
0.003 | pancreatitis idiopathic | Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... | BeFree | 17681820 | Detail |
0.005 | pancreatitis idiopathic | Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... | BeFree | 17681820 | Detail |
0.173 | Pancreatitis, Chronic | Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens... | BeFree | 17681820 | Detail |
0.010 | cystic fibrosis | Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... | BeFree | 17681820 | Detail |
0.220 | Pancreatitis, Chronic | Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens... | BeFree | 17681820 | Detail |
0.800 | cystic fibrosis | To evaluate the role of complex alleles, with two or more mutations in cis posit... | BeFree | 20706124 | Detail |
0.800 | cystic fibrosis | Remarkably, in all three affected individuals, the SPINK1 deletion was found to ... | BeFree | 17681820 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Pancreatitis, idiopathic, susceptibility to | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Hypertrypsinemia, neonatal, susceptibility to | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Cystic fibrosis | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND not provided | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND not specified | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Pancreatitis | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND CFTR-related disorder | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Infertility disorder | ClinVar | Detail |
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) AND Obstructive azoospermia | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... | DisGeNET | Detail |
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... | DisGeNET | Detail |
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i... | DisGeNET | Detail |
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... | DisGeNET | Detail |
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i... | DisGeNET | Detail |
To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic f... | DisGeNET | Detail |
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with... | 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
- rs1800111 dbSNP
- Genome
- hg38
- Position
- chr7:117,610,521-117,610,521
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8626
- 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)
- 120696
- Allele Counts in All Race (ExAC)
- 254
- Heterozygous Counts in All Race (ExAC)
- 254
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0021044607940611123
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