chr7:117180264:T>G Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,180,264-117,180,264
hg38 chr7:117,540,210-117,540,210 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.980T>G NP_000483.3:p.Leu327Arg
Ensemble ENST00000003084.11:c.980T>G ENST00000003084.11:p.Leu327Arg
ENST00000648260.1:c.980T>G ENST00000648260.1:p.Leu327Arg
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 Uncertain significance
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 2023-08-11 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-03-23 criteria provided, multiple submitters, no conflicts cystic fibrosis germline Detail
Uncertain significance 2018-05-12 no assertion criteria provided CFTR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis However, neither the R117H nor the N21L mutation in the cationic trypsinogen wer... BeFree 10653140 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) AND CFTR-related disorder ClinVar Detail
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP fa... 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
rs141115171 dbSNP
Genome
hg19
Position
chr7:117,180,264-117,180,264
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121304
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4731253709688055E-5
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