chr7:117652877:C>G Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,292,931-117,292,931 View the variant detail on this assembly version.
hg38 chr7:117,652,877-117,652,877

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 Pathogenic
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 tgv351816736 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-03-03 practice guideline cystic fibrosis germline inherited unknown Detail
Pathogenic 2023-10-26 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Pathogenic criteria provided, single submitter cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Pathogenic 2023-12-13 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2021-05-25 criteria provided, single submitter Hereditary pancreatitis germline Detail
Pathogenic 2018-06-07 criteria provided, single submitter Spermatogenic failure, Y-linked, 2 unknown Detail
Pathogenic 2023-10-12 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 1 unknown 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

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80034486 dbSNP
Genome
hg38
Position
chr7:117,652,877-117,652,877
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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