chr7:117180284:C>T Detail (hg19) (CFTR)

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

Genome

Assembly	Position
hg19	chr7:117,180,284-117,180,284
hg38	chr7:117,540,230-117,540,230 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.1000C>T	NP_000483.3:p.Arg334Trp
Ensemble	ENST00000003084.11:c.1000C>T	ENST00000003084.11:p.Arg334Trp
	ENST00000648260.1:c.1000C>T	ENST00000648260.1:p.Arg334Trp
	ENST00000649406.1:c.1000C>T	ENST00000649406.1:p.Arg334Trp
	ENST00000649781.2:c.1000C>T	ENST00000649781.2:p.Arg334Trp
	ENST00000699596.1:c.1000C>T	ENST00000699596.1:p.Arg334Trp
	ENST00000699597.1:c.1000C>T	ENST00000699597.1:p.Arg334Trp
	ENST00000699602.1:c.1000C>T	ENST00000699602.1:p.Arg334Trp
	ENST00000699605.1:c.757C>T	ENST00000699605.1:p.Arg253Trp

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	COSM6220227	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 inherited unknown	Detail
Pathogenic	2022-07-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis	unknown	Detail
Pathogenic	2019-02-08	criteria provided, single submitter	not specified	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	2023-12-27	criteria provided, single submitter	CFTR-related disorder	germline	Detail
Pathogenic	2023-10-19	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 transmembrane regulator (CFTR) gene mutations identified wer...	BeFree	11883825	Detail
0.800	cystic fibrosis	We present a phenotype-genotype correlation analysis in 12 patients with cystic ...	BeFree	9039981	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND not specified	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) AND Bronchiectasis with or without elevated sweat chloride...	ClinVar	Detail
NA	DisGeNET	Detail
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R...	DisGeNET	Detail
We present a phenotype-genotype correlation analysis in 12 patients with cystic fibrosis (CF) carryi...	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: rs121909011 dbSNP
Genome: hg19
Position: chr7:117,180,284-117,180,284
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 121330
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.593587735926811E-5

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