chr7:117171029:G>A Detail (hg19) (CFTR, CFTR-AS1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr7:117,171,029-117,171,029
hg38	chr7:117,530,975-117,530,975 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.350G>A	NP_000483.3:p.Arg117His
Ensemble	ENST00000003084.11:c.350G>A	ENST00000003084.11:p.Arg117His
	ENST00000648260.1:c.350G>A	ENST00000648260.1:p.Arg117His
	ENST00000649406.1:c.350G>A	ENST00000649406.1:p.Arg117His
	ENST00000649781.2:c.350G>A	ENST00000649781.2:p.Arg117His
	ENST00000699596.1:c.350G>A	ENST00000699596.1:p.Arg117His
	ENST00000699597.1:c.350G>A	ENST00000699597.1:p.Arg117His
	ENST00000699602.1:c.350G>A	ENST00000699602.1:p.Arg117His
	ENST00000699605.1:c.107G>A	ENST00000699605.1:p.Arg36His

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	Pathogenic
Review star
Show details

Links

CFTR

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	2004-03-03	practice guideline	cystic fibrosis	germline maternal paternal unknown	Detail
Pathogenic	2009-11-01	no assertion criteria provided	Congenital bilateral aplasia of vas deferens from CFTR mutation	germline	Detail
Pathogenic Likely pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic		reviewed by expert panel	cystic fibrosis	germline	Detail
drug response	2021-03-24	reviewed by expert panel		germline	Detail
Pathogenic	2022-04-13	criteria provided, single submitter	cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
Pathogenic	2022-04-13	criteria provided, single submitter	cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
Pathogenic	2022-04-13	criteria provided, single submitter	cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
Pathogenic	2022-04-13	criteria provided, single submitter	cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
Pathogenic	2018-10-24	criteria provided, multiple submitters, no conflicts	Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis	germline	Detail
Pathogenic	2018-10-24	criteria provided, multiple submitters, no conflicts	Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis	germline	Detail
Pathogenic	2018-01-29	criteria provided, single submitter	CFTR-related disorder	germline	Detail
Pathogenic	2021-08-23	criteria provided, single submitter		germline	Detail
Pathogenic	2023-10-31	criteria provided, single submitter	Bronchiectasis with or without elevated sweat chloride 1	unknown	Detail
Pathogenic	2024-03-14	criteria provided, single submitter	Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.509	Congenital bilateral aplasia of vas deferens	NA	CLINVAR		Detail
0.800	cystic fibrosis	NA	CLINVAR		Detail
0.800	cystic fibrosis	Because PPi stimulated wild-type channels, we tested its effect on CFTR containi...	BeFree	7544788	Detail
0.268	Hereditary pancreatitis	However, neither the R117H nor the N21L mutation in the cationic trypsinogen wer...	BeFree	10653140	Detail
<0.001	Diaphoresis Adverse Event	To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydec...	BeFree	24520399	Detail
0.003	Bronchial Hyperreactivity	Possible associations between asthma, reduced lung function, bronchial hyperresp...	BeFree	16678395	Detail
0.173	Pancreatitis, Chronic	[We wanted to describe etiologies of today and identify patients with genetic di...	GAD	20108119	Detail
0.509	Congenital bilateral aplasia of vas deferens	The high frequency of the cystic fibrosis (CF) transmembrane conductance regulat...	BeFree	23378603	Detail
0.800	cystic fibrosis	However knowledge about the residual function of R117H-CFTR channels in cystic f...	BeFree	21507732	Detail
0.026	exocrine pancreatic insufficiency	[The prevalence of CP, especially in women, increased over time. Genetic causes ...	GAD	20108119	Detail
0.800	cystic fibrosis	Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R11...	BeFree	17015492	Detail
0.032	Lung diseases	Patients with two identified CFTR mutations which include the R117H/7T anomaly s...	BeFree	16266832	Detail
0.018	Pancreatitis, Alcoholic	[The prevalence of CP, especially in women, increased over time. Genetic causes ...	GAD	20108119	Detail
0.800	cystic fibrosis	Debate continues regarding the clinical implications for compound heterozygotes ...	BeFree	18394117	Detail
0.800	cystic fibrosis	The high frequency of the cystic fibrosis (CF) transmembrane conductance regulat...	BeFree	23378603	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Congenital bilateral aplasia of vas deferens from CFTR ...	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND not provided	ClinVar	Detail
NM_000492.3(CFTR):c.[350G>A;1210-12[5]] AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND ivacaftor response - Efficacy	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Obstructive azoospermia	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Bronchiectasis with or without elevated sweat chloride ...	ClinVar	Detail
NM_000492.4(CFTR):c.350G>A (p.Arg117His) AND Pseudomonas aeruginosa, susceptibility to chronic infec...	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibros...	DisGeNET	Detail
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP fa...	DisGeNET	Detail
To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydeco) improves CFTR-dep...	DisGeNET	Detail
Possible associations between asthma, reduced lung function, bronchial hyperresponsiveness (BHR), an...	DisGeNET	Detail
[We wanted to describe etiologies of today and identify patients with genetic disorders like heredit...	DisGeNET	Detail
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutat...	DisGeNET	Detail
However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected org...	DisGeNET	Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total...	DisGeNET	Detail
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be includ...	DisGeNET	Detail
Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up...	DisGeNET	Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total...	DisGeNET	Detail
Debate continues regarding the clinical implications for compound heterozygotes identified with Phe5...	DisGeNET	Detail
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutat...	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: rs78655421 dbSNP
Genome: hg19
Position: chr7:117,171,029-117,171,029
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): 120360
Allele Counts in All Race (ExAC): 185
Heterozygous Counts in All Race (ExAC): 185
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.001537055500166168

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