chr7:117590400:G>C Detail (hg38) (CFTR, CFTR-AS1)

Information

Genome

Assembly Position
hg19 chr7:117,230,454-117,230,454 View the variant detail on this assembly version.
hg38 chr7:117,590,400-117,590,400

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1727G>C NP_000483.3:p.Gly576Ala
Ensemble ENST00000003084.11:c.1727G>C ENST00000003084.11:p.Gly576Ala
ENST00000648260.1:c.1402-12426G>C
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 Conflicting classifications of pathogenicity
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 tgv351814496 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-07-22 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Conflicting interpretations of pathogenicity 2024-03-05 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2023-03-16 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2015-05-14 no assertion criteria provided germline Detail
Uncertain significance 2015-05-14 no assertion criteria provided germline Detail
Conflicting interpretations of pathogenicity 2023-10-11 criteria provided, conflicting interpretations CFTR-related disorder germline Detail
Pathogenic 2020-02-25 criteria provided, single submitter cystic fibrosis unknown Detail
Likely benign 2023-04-07 criteria provided, single submitter not specified germline 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
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND Congenital bilateral aplasia of vas deferens from CFTR... ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND Chronic sinusitis ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND Lung disease, non-specific ClinVar Detail
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) AND CFTR-related disorder ClinVar Detail
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T] AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.[1727G>C;2002C>T] AND not specified ClinVar Detail
NA DisGeNET 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
rs1800098 dbSNP
Genome
hg38
Position
chr7:117,590,400-117,590,400
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8608
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)
120564
Allele Counts in All Race (ExAC)
623
Heterozygous Counts in All Race (ExAC)
621
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.005167379980757108
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