chr7:117304834:G>T Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,304,834-117,304,834
hg38 chr7:117,664,780-117,664,780 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.4056G>T NP_000483.3:p.Gln1352His
Ensemble ENST00000003084.11:c.4056G>T ENST00000003084.11:p.Gln1352His
ENST00000649781.2:c.3873G>T ENST00000649781.2:p.Gln1291His
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
Uncertain significance 2024-02-12 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2020-01-23 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2024-01-17 criteria provided, conflicting interpretations cystic fibrosis germline Detail
Likely pathogenic 2021-05-24 criteria provided, single submitter Hereditary pancreatitis germline Detail
Uncertain significance 2023-02-02 criteria provided, single submitter CFTR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.509 Congenital bilateral aplasia of vas deferens NA CLINVAR Detail
0.018 Pancreatitis, Alcoholic This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... BeFree 16187186 Detail
0.800 cystic fibrosis NA CLINVAR Detail
0.021 Pancreatitis, Alcoholic This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... BeFree 16187186 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND CFTR-related disorder ClinVar Detail
NA DisGeNET Detail
This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... DisGeNET Detail
NA DisGeNET Detail
This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... 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
rs113857788 dbSNP
Genome
hg19
Position
chr7:117,304,834-117,304,834
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121348
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.7685334739756734E-5
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