chr7:117230409:C>A Detail (hg19) (CFTR)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:117,230,409-117,230,409
hg38	chr7:117,590,355-117,590,355 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.1682C>A	NP_000483.3:p.Ala561Glu
Ensemble	ENST00000003084.11:c.1682C>A	ENST00000003084.11:p.Ala561Glu
	ENST00000648260.1:c.1402-12471C>A
	ENST00000649406.1:c.1499C>A	ENST00000649406.1:p.Ala500Glu
	ENST00000649781.2:c.1499C>A	ENST00000649781.2:p.Ala500Glu
	ENST00000699602.1:c.1682C>A	ENST00000699602.1:p.Ala561Glu
	ENST00000699605.1:c.1256C>A	ENST00000699605.1:p.Ala419Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2017-03-17	reviewed by expert panel	cystic fibrosis	germline unknown	Detail
Pathogenic	2022-06-08	criteria provided, single submitter	not provided	unknown	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	2017-09-01	no assertion criteria provided	CFTR-related disorder	germline	Detail
Pathogenic	2023-03-28	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	A561E, a novel cystic fibrosis (CF) associated mutation in the first nucleotide ...	BeFree	14623323	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND Bronchiectasis with or without elevated sweat chloride...	ClinVar	Detail
NA	DisGeNET	Detail
A561E, a novel cystic fibrosis (CF) associated mutation in the first nucleotide binding domain of CF...	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: rs121909047 dbSNP
Genome: hg19
Position: chr7:117,230,409-117,230,409
Variant Type: snv
Reference Allele: C
Alternative Allele: A

Genome browser