chr7:117603687:T>G Detail (hg38) (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	chr7:117,243,741-117,243,741 View the variant detail on this assembly version.
hg38	chr7:117,603,687-117,603,687

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.2813T>G	NP_000483.3:p.Val938Gly
Ensemble	ENST00000003084.11:c.2813T>G	ENST00000003084.11:p.Val938Gly
	ENST00000648260.1:c.1595T>G	ENST00000648260.1:p.Val532Gly
	ENST00000649406.1:c.2630T>G	ENST00000649406.1:p.Val877Gly
	ENST00000649781.2:c.2630T>G	ENST00000649781.2:p.Val877Gly
	ENST00000699602.1:c.2813T>G	ENST00000699602.1:p.Val938Gly
	ENST00000699605.1:c.2387T>G	ENST00000699605.1:p.Val796Gly

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	Conflicting classifications of pathogenicity
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	2023-10-06	criteria provided, single submitter	Congenital bilateral aplasia of vas deferens from CFTR mutation	germline	Detail
Uncertain significance	2017-03-16	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2017-10-19	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-16	criteria provided, conflicting interpretations	cystic fibrosis	germline	Detail
Pathogenic	2021-01-18	criteria provided, single submitter	CFTR-related disorder	germline	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.2813T>G (p.Val938Gly) AND Congenital bilateral aplasia of vas deferens from CFTR...	ClinVar	Detail
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) AND not specified	ClinVar	Detail
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) AND CFTR-related disorder	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: rs193922511 dbSNP
Genome: hg38
Position: chr7:117,603,687-117,603,687
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8654
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): 121338
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): 3.296576505299247E-5

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