chr7:117282582:G>A Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,282,582-117,282,582
hg38 chr7:117,642,528-117,642,528 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3808G>A NP_000483.3:p.Asp1270Asn
Ensemble ENST00000003084.11:c.3808G>A ENST00000003084.11:p.Asp1270Asn
ENST00000649781.2:c.3625G>A ENST00000649781.2:p.Asp1209Asn
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
Links
Type Database ID Link
Gene MIM 602421 OMIM
HGNC 1884 HGNC
Ensembl ENSG00000001626 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-04-01 no assertion criteria provided Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Conflicting interpretations of pathogenicity 2020-12-21 criteria provided, conflicting interpretations Hereditary pancreatitis germline Detail
Conflicting interpretations of pathogenicity 2023-01-30 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2023-05-23 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-23 criteria provided, conflicting interpretations CFTR-related disorder germline Detail
Uncertain significance 2023-10-06 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
0.800 cystic fibrosis NA CLINVAR Detail
0.121 Hereditary pancreatitis NA CLINVAR Detail
0.509 Congenital bilateral aplasia of vas deferens We found that R74W cystic fibrosis transmembrane conductance regulator appears t... BeFree 10386624 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND Congenital bilateral aplasia of vas deferens from CFT... ClinVar Detail
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.[220C>T;3808G>A] AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism,... 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
rs11971167 dbSNP
Genome
hg19
Position
chr7:117,282,582-117,282,582
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8542
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)
120970
Allele Counts in All Race (ExAC)
177
Heterozygous Counts in All Race (ExAC)
175
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0014631726874431677
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