chr7:117188688:TT> 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	chr7:117,188,688-117,188,689
hg38	chr7:117,548,634-117,548,635

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.1210-7_1210-6delTT
Ensemble	ENST00000003084.11:c.1210-7_1210-6delTT
	ENST00000648260.1:c.1209+6526_1209+6527delTT
	ENST00000649406.1:c.1209+6526_1209+6527delTT
	ENST00000649781.2:c.1209+6526_1209+6527delTT
	ENST00000699596.1:c.1210-7_1210-6delTT
	ENST00000699597.1:c.1210-7_1210-6delTT
	ENST00000699602.1:c.1210-7_1210-6delTT
	ENST00000699605.1:c.966+6526_966+6527delTT

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:0.010

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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	2021-07-22	criteria provided, multiple submitters, no conflicts	Congenital bilateral aplasia of vas deferens from CFTR mutation	germline	Detail
risk factor	2008-05-28	no assertion criteria provided	Bronchiectasis with or without elevated sweat chloride 1, modifier of	germline	Detail
Uncertain significance	2016-01-14	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2024-03-26	criteria provided, conflicting interpretations	cystic fibrosis	germline unknown	Detail
Pathogenic		reviewed by expert panel	cystic fibrosis	germline	Detail
Pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-01-29	criteria provided, single submitter	cystic fibrosis,CFTR-related disorder	germline	Detail
Pathogenic	2018-01-29	criteria provided, single submitter	cystic fibrosis,CFTR-related disorder	germline	Detail
Pathogenic	2019-02-14	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely pathogenic	2021-08-23	criteria provided, single submitter		germline	Detail
Pathogenic	2022-02-01	criteria provided, single submitter	Hereditary pancreatitis	germline	Detail
not provided		no assertion provided	Hereditary pancreatitis,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
not provided		no assertion provided	Hereditary pancreatitis,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
not provided		no assertion provided	Hereditary pancreatitis,cystic fibrosis,Congenital bilateral aplasia of vas deferens from CFTR mutation	unknown	Detail
not provided		no assertion provided	congenital bilateral absence of vas deferens	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_000492.3(CFTR):c.1210-12T[5] AND Congenital bilateral aplasia of vas deferens from CFTR mutation	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Bronchiectasis with or without elevated sweat chloride 1, modifi...	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND not specified	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Cystic fibrosis	ClinVar	Detail
NM_000492.3(CFTR):c.[350G>A;1210-12[5]] AND Cystic fibrosis	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND not provided	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND multiple conditions	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND multiple conditions	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Inborn genetic diseases	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Obstructive azoospermia	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Hereditary pancreatitis	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND multiple conditions	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND multiple conditions	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND multiple conditions	ClinVar	Detail
NM_000492.3(CFTR):c.1210-12T[5] AND Congenital bilateral absence of vas deferens	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1805177 dbSNP
Genome: hg19
Position: chr7:117,188,688-117,188,689
Variant Type: snv
Reference Allele: TT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 7664
East Asian Allele Counts (ExAC): 73
East Asian Heterozygous Counts (ExAC): 72
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.009525052192066806
Chromosome Counts in All Race (ExAC): 99808
Allele Counts in All Race (ExAC): 2798
Heterozygous Counts in All Race (ExAC): 2475
Homozygous Counts in All Race (ExAC): 26
Allele Frequency in All Race (ExAC): 0.028033824943892272

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