chr7:117171009:C>A 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	chr7:117,171,009-117,171,009
hg38	chr7:117,530,955-117,530,955 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.330C>A	NP_000483.3:p.Asp110Glu
Ensemble	ENST00000003084.11:c.330C>A	ENST00000003084.11:p.Asp110Glu
	ENST00000648260.1:c.330C>A	ENST00000648260.1:p.Asp110Glu
	ENST00000649406.1:c.330C>A	ENST00000649406.1:p.Asp110Glu
	ENST00000649781.2:c.330C>A	ENST00000649781.2:p.Asp110Glu
	ENST00000699596.1:c.330C>A	ENST00000699596.1:p.Asp110Glu
	ENST00000699597.1:c.330C>A	ENST00000699597.1:p.Asp110Glu
	ENST00000699602.1:c.330C>A	ENST00000699602.1:p.Asp110Glu
	ENST00000699605.1:c.87C>A	ENST00000699605.1:p.Asp29Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	drug response
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
Conflicting interpretations of pathogenicity	2023-10-25	criteria provided, conflicting interpretations	cystic fibrosis	germline unknown	Detail
Pathogenic	2017-05-23	criteria provided, single submitter	not provided	germline	Detail
drug response	2021-03-24	reviewed by expert panel		germline	Detail
Pathogenic	2018-03-09	criteria provided, single submitter	CFTR-related disorder,cystic fibrosis	germline	Detail
Pathogenic	2018-03-09	criteria provided, single submitter	CFTR-related disorder,cystic fibrosis	germline	Detail
Pathogenic	2017-09-05	no assertion criteria provided	CFTR-related disorder	germline	Detail
Likely pathogenic	2023-10-28	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	The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified wer...	BeFree	11883825	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND ivacaftor response - Efficacy	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND multiple conditions	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND Bronchiectasis with or without elevated sweat chloride ...	ClinVar	Detail
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R...	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: rs397508537 dbSNP
Genome: hg19
Position: chr7:117,171,009-117,171,009
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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