chr7:117251704:G>A Detail (hg19) (CFTR, CFTR-AS1, LOC111674472)

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

Information

Genome

Assembly	Position
hg19	chr7:117,251,704-117,251,704
hg38	chr7:117,611,650-117,611,650 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.3209G>A	NP_000483.3:p.Arg1070Gln
Ensemble	ENST00000003084.11:c.3209G>A	ENST00000003084.11:p.Arg1070Gln
	ENST00000648260.1:c.1991G>A	ENST00000648260.1:p.Arg664Gln
	ENST00000649406.1:c.3026G>A	ENST00000649406.1:p.Arg1009Gln
	ENST00000649781.2:c.3026G>A	ENST00000649781.2:p.Arg1009Gln
	ENST00000699602.1:c.3209G>A	ENST00000699602.1:p.Arg1070Gln
	ENST00000699605.1:c.2783G>A	ENST00000699605.1:p.Arg928Gln

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	drug response
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
Conflicting interpretations of pathogenicity	2024-01-25	criteria provided, conflicting interpretations	cystic fibrosis	germline unknown	Detail
drug response	2021-03-24	reviewed by expert panel		germline	Detail
Conflicting interpretations of pathogenicity	2023-07-07	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Pathogenic	2019-03-11	reviewed by expert panel	cystic fibrosis	germline	Detail
Pathogenic		criteria provided, single submitter	Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis	germline	Detail
Pathogenic		criteria provided, single submitter	Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis	germline	Detail
Pathogenic	2015-07-03	criteria provided, single submitter	cystic fibrosis,CFTR-related disorder	germline	Detail
Pathogenic	2015-07-03	criteria provided, single submitter	cystic fibrosis,CFTR-related disorder	germline	Detail
Pathogenic	2022-03-16	criteria provided, single submitter		germline	Detail
Pathogenic	2023-12-05	criteria provided, single submitter	CFTR-related disorder	germline	Detail
Pathogenic	2023-10-31	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
0.509	Congenital bilateral aplasia of vas deferens	NA	CLINVAR		Detail
0.800	cystic fibrosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND ivacaftor response - Efficacy	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND not provided	ClinVar	Detail
NM_000492.3(CFTR):c.[1397C>G;3209G>A] AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND Obstructive azoospermia	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) AND Bronchiectasis with or without elevated sweat chlorid...	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs78769542 dbSNP
Genome: hg19
Position: chr7:117,251,704-117,251,704
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8580
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1655011655011655E-4
Chromosome Counts in All Race (ExAC): 120098
Allele Counts in All Race (ExAC): 97
Heterozygous Counts in All Race (ExAC): 93
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 8.076737331179537E-4

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