chr7:117251691:C>A Detail (hg19) (CFTR, LOC111674472)

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

Genome

Assembly	Position
hg19	chr7:117,251,691-117,251,691
hg38	chr7:117,611,637-117,611,637 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.3196C>A	NP_000483.3:p.Arg1066Ser
Ensemble	ENST00000003084.11:c.3196C>A	ENST00000003084.11:p.Arg1066Ser
	ENST00000648260.1:c.1978C>A	ENST00000648260.1:p.Arg660Ser
	ENST00000649406.1:c.3013C>A	ENST00000649406.1:p.Arg1005Ser
	ENST00000649781.2:c.3013C>A	ENST00000649781.2:p.Arg1005Ser
	ENST00000699602.1:c.3196C>A	ENST00000699602.1:p.Arg1066Ser
	ENST00000699605.1:c.2770C>A	ENST00000699605.1:p.Arg924Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2017-12-07	criteria provided, single submitter	cystic fibrosis	germline 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	Missense mutation R1066C in the second transmembrane domain of CFTR causes a sev...	BeFree	9375855	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) AND Cystic fibrosis	ClinVar	Detail
NA	DisGeNET	Detail
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R...	DisGeNET	Detail
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis ...	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: rs78194216 dbSNP
Genome: hg19
Position: chr7:117,251,691-117,251,691
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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