chr7:117304824:G>A Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,304,824-117,304,824
hg38 chr7:117,664,770-117,664,770 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.4046G>A NP_000483.3:p.Gly1349Asp
Ensemble ENST00000003084.11:c.4046G>A ENST00000003084.11:p.Gly1349Asp
ENST00000649781.2:c.3863G>A ENST00000649781.2:p.Gly1288Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic; drug response
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
Pathogenic 2017-03-17 reviewed by expert panel cystic fibrosis germline unknown Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2017-08-29 no assertion criteria provided CFTR-related disorder germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter Hereditary pancreatitis germline Detail
Pathogenic 2021-10-22 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Pathogenic 2021-10-22 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Pathogenic 2021-10-22 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Pathogenic 2021-10-22 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
Pathogenic 2023-04-18 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 NA CLINVAR Detail
0.800 cystic fibrosis The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abo... BeFree 15163550 Detail
0.800 cystic fibrosis Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D an... BeFree 16311240 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) AND Bronchiectasis with or without elevated sweat chlorid... ClinVar Detail
NA DisGeNET Detail
The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activatio... DisGeNET Detail
Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentia... 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
rs193922525 dbSNP
Genome
hg19
Position
chr7:117,304,824-117,304,824
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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