chr7:117254753:G>C Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,254,753-117,254,753
hg38 chr7:117,614,699-117,614,699 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3454G>C NP_000483.3:p.Asp1152His
Ensemble ENST00000003084.11:c.3454G>C ENST00000003084.11:p.Asp1152His
ENST00000648260.1:c.2236G>C ENST00000648260.1:p.Asp746His
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 COSM3257317 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts cystic fibrosis germline maternal unknown Detail
Pathogenic Likely pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Pathogenic criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Pathogenic 2018-01-29 criteria provided, single submitter cystic fibrosis,CFTR-related disorder germline Detail
Pathogenic 2018-01-29 criteria provided, single submitter cystic fibrosis,CFTR-related disorder germline Detail
Pathogenic no assertion criteria provided male infertility germline Detail
Pathogenic 2018-02-13 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation paternal Detail
Pathogenic 2022-03-16 criteria provided, single submitter germline Detail
Likely pathogenic 2024-01-30 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-30 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
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 Non-classic cystic fibrosis associated with D1152H CFTR mutation. BeFree 19843100 Detail
0.131 bronchiectasis NA CLINVAR Detail
0.800 cystic fibrosis A large deletion causes apparent homozygosity for the D1152H mutation in the cys... BeFree 22310382 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND Male infertility ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND Congenital bilateral aplasia of vas deferens from CFT... ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND Obstructive azoospermia ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) AND Bronchiectasis with or without elevated sweat chlorid... ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R... DisGeNET Detail
Non-classic cystic fibrosis associated with D1152H CFTR mutation. DisGeNET Detail
NA DisGeNET Detail
A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transme... 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
rs75541969 dbSNP
Genome
hg19
Position
chr7:117,254,753-117,254,753
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121036
Allele Counts in All Race (ExAC)
32
Heterozygous Counts in All Race (ExAC)
32
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.643841501701973E-4
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