chr7:117251691:C>T Detail (hg19) (CFTR, LOC111674472)

Information

Genome

Assembly Position
hg19 chr7:117,251,691-117,251,691
hg38 chr7:117,611,637-117,611,637 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3196C>T NP_000483.3:p.Arg1066Cys
Ensemble ENST00000003084.11:c.3196C>T ENST00000003084.11:p.Arg1066Cys
ENST00000648260.1:c.1978C>T ENST00000648260.1:p.Arg660Cys
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
COSMIC COSM3922555 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-03-17 reviewed by expert panel cystic fibrosis germline unknown Detail
Pathogenic 2022-08-07 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2019-02-21 criteria provided, single submitter not specified germline 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 2017-03-17 no assertion criteria provided CFTR-related disorder germline Detail
Pathogenic 2021-11-04 criteria provided, single submitter Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation unknown Detail
Pathogenic 2021-11-04 criteria provided, single submitter Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation unknown Detail
Pathogenic 2021-11-04 criteria provided, single submitter Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation unknown Detail
Pathogenic 2021-11-04 criteria provided, single submitter Hereditary pancreatitis,Bronchiectasis with or without elevated sweat chloride 1,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation unknown Detail
Pathogenic 2023-10-09 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 Missense mutation R1066C in the second transmembrane domain of CFTR causes a sev... BeFree 9375855 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) 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
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis ... 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
rs78194216 dbSNP
Genome
hg19
Position
chr7:117,251,691-117,251,691
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8536
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)
119434
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.372825158665037E-6
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