chr7:117603539:C>T Detail (hg38) (CFTR)

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

Information

Genome

Assembly	Position
hg19	chr7:117,243,593-117,243,593 View the variant detail on this assembly version.
hg38	chr7:117,603,539-117,603,539

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.2665C>T	NP_000483.3:p.Leu889Phe
Ensemble	ENST00000003084.11:c.2665C>T	ENST00000003084.11:p.Leu889Phe
	ENST00000648260.1:c.1447C>T	ENST00000648260.1:p.Leu483Phe
	ENST00000649406.1:c.2482C>T	ENST00000649406.1:p.Leu828Phe
	ENST00000649781.2:c.2482C>T	ENST00000649781.2:p.Leu828Phe
	ENST00000699602.1:c.2665C>T	ENST00000699602.1:p.Leu889Phe
	ENST00000699605.1:c.2239C>T	ENST00000699605.1:p.Leu747Phe

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	Uncertain significance
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
Uncertain significance	2018-06-27	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-05-02	criteria provided, multiple submitters, no conflicts	cystic fibrosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	pancreatitis idiopathic	Remarkably, in all three affected individuals, the SPINK1 deletion was found to ...	BeFree	17681820	Detail
0.005	pancreatitis idiopathic	Remarkably, in all three affected individuals, the SPINK1 deletion was found to ...	BeFree	17681820	Detail
0.173	Pancreatitis, Chronic	Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens...	BeFree	17681820	Detail
0.010	cystic fibrosis	Remarkably, in all three affected individuals, the SPINK1 deletion was found to ...	BeFree	17681820	Detail
0.220	Pancreatitis, Chronic	Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missens...	BeFree	17681820	Detail
0.800	cystic fibrosis	To evaluate the role of complex alleles, with two or more mutations in cis posit...	BeFree	20706124	Detail
0.800	cystic fibrosis	Remarkably, in all three affected individuals, the SPINK1 deletion was found to ...	BeFree	17681820	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) AND Cystic fibrosis	ClinVar	Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with...	DisGeNET	Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with...	DisGeNET	Detail
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i...	DisGeNET	Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with...	DisGeNET	Detail
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) i...	DisGeNET	Detail
To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic f...	DisGeNET	Detail
Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with...	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: rs61738523 dbSNP
Genome: hg38
Position: chr7:117,603,539-117,603,539
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121116
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.302618976848641E-5

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