chr7:117251649:T>G Detail (hg19) (CFTR, LOC111674472)

Information

Genome

Assembly Position
hg19 chr7:117,251,649-117,251,649
hg38 chr7:117,611,595-117,611,595 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3154T>G NP_000483.3:p.Phe1052Val
Ensemble ENST00000003084.11:c.3154T>G ENST00000003084.11:p.Phe1052Val
ENST00000648260.1:c.1936T>G ENST00000648260.1:p.Phe646Val
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
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Conflicting interpretations of pathogenicity 2023-12-01 criteria provided, conflicting interpretations not provided germline unknown Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Conflicting interpretations of pathogenicity 2022-02-15 criteria provided, conflicting interpretations Hereditary pancreatitis germline maternal 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 2018-03-26 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-31 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
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) 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

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
rs150212784 dbSNP
Genome
hg19
Position
chr7:117,251,649-117,251,649
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
7868
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)
110980
Allele Counts in All Race (ExAC)
73
Heterozygous Counts in All Race (ExAC)
71
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
6.577761758875473E-4
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