chr7:117171037:G>A Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,171,037-117,171,037
hg38 chr7:117,530,983-117,530,983 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.358G>A NP_000483.3:p.Ala120Thr
Ensemble ENST00000003084.11:c.358G>A ENST00000003084.11:p.Ala120Thr
ENST00000648260.1:c.358G>A ENST00000648260.1:p.Ala120Thr
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
COSMIC COSM5548481 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-07-06 criteria provided, multiple submitters, no conflicts cystic fibrosis germline unknown Detail
Uncertain significance 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance no assertion criteria provided Infertility disorder germline Detail
Uncertain significance 2023-10-02 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2024-04-28 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 The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified wer... BeFree 11883825 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) AND Infertility disorder ClinVar Detail
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) AND Bronchiectasis with or without elevated sweat chloride ... ClinVar 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
rs201958172 dbSNP
Genome
hg19
Position
chr7:117,171,037-117,171,037
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8612
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)
120358
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1631964638827499E-4
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