chr7:117267812:T>G Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,267,812-117,267,812
hg38 chr7:117,627,758-117,627,758 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3705T>G NP_000483.3:p.Ser1235Arg
Ensemble ENST00000003084.11:c.3705T>G ENST00000003084.11:p.Ser1235Arg
ENST00000648260.1:c.2487T>G ENST00000648260.1:p.Ser829Arg
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Benign Likely benign 2018-09-14 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2017-04-27 criteria provided, single submitter CFTR-related disorder germline Detail
no classifications from unflagged records 2023-10-12 no classifications from unflagged records germline Detail
Benign 2020-10-24 criteria provided, single submitter Hereditary pancreatitis germline Detail
Uncertain significance 2023-10-09 no assertion criteria provided Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 cystic fibrosis NA CLINVAR Detail
0.800 cystic fibrosis We report the case of a patient suffering from idiopathic chronic pancreatitis (... BeFree 14586256 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND Obstructive azoospermia ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) AND Congenital bilateral aplasia of vas deferens from CFT... ClinVar Detail
NA DisGeNET Detail
We report the case of a patient suffering from idiopathic chronic pancreatitis (ICP) and compound he... 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
rs34911792 dbSNP
Genome
hg19
Position
chr7:117,267,812-117,267,812
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8458
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)
120182
Allele Counts in All Race (ExAC)
600
Heterozygous Counts in All Race (ExAC)
596
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.004992428150638199
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