chr7:117251703:C>T Detail (hg19) (CFTR, LOC111674472)

Information

Genome

Assembly Position
hg19 chr7:117,251,703-117,251,703
hg38 chr7:117,611,649-117,611,649 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3208C>T NP_000483.3:p.Arg1070Trp
Ensemble ENST00000003084.11:c.3208C>T ENST00000003084.11:p.Arg1070Trp
ENST00000648260.1:c.1990C>T ENST00000648260.1:p.Arg664Trp
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 drug response
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 2015-05-11 criteria provided, multiple submitters, no conflicts cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Pathogenic 2015-05-11 criteria provided, multiple submitters, no conflicts cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Conflicting interpretations of pathogenicity 2023-08-15 criteria provided, conflicting interpretations not provided germline unknown Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts cystic fibrosis germline unknown Detail
Pathogenic 2018-01-29 criteria provided, single submitter CFTR-related disorder,cystic fibrosis germline Detail
Pathogenic 2018-01-29 criteria provided, single submitter CFTR-related disorder,cystic fibrosis germline Detail
Pathogenic 2020-02-08 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-03-30 criteria provided, single submitter congenital bilateral absence of vas deferens germline Detail
Likely pathogenic 2023-03-09 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-17 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
0.509 Congenital bilateral aplasia of vas deferens NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND Congenital bilateral absence of vas deferens ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) AND Bronchiectasis with or without elevated sweat chlorid... ClinVar Detail
NA 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
rs202179988 dbSNP
Genome
hg19
Position
chr7:117,251,703-117,251,703
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8578
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)
120060
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.164584374479427E-5
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