chr7:117227865:C>G Detail (hg19) (CFTR, LOC111674475)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:117,227,865-117,227,865
hg38	chr7:117,587,811-117,587,811 View the variant detail on this assembly version.

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.1657C>G	NP_000483.3:p.Arg553Gly
Ensemble	ENST00000003084.11:c.1657C>G	ENST00000003084.11:p.Arg553Gly
	ENST00000648260.1:c.1402-15015C>G
	ENST00000649406.1:c.1474C>G	ENST00000649406.1:p.Arg492Gly
	ENST00000649781.2:c.1474C>G	ENST00000649781.2:p.Arg492Gly
	ENST00000699602.1:c.1657C>G	ENST00000699602.1:p.Arg553Gly
	ENST00000699605.1:c.1231C>G	ENST00000699605.1:p.Arg411Gly

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	2022-07-23	criteria provided, multiple submitters, no conflicts	cystic fibrosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.800	cystic fibrosis	NA	CLINVAR		Detail
0.800	cystic fibrosis	Severe deficiency of cystic fibrosis transmembrane conductance regulator messeng...	BeFree	1721624	Detail
0.800	cystic fibrosis	We have studied the effects of the stop mutation R553X in exon 11 of the CFTR ge...	BeFree	7514569	Detail
<0.001	chronic pulmonary heart disease	Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 an...	BeFree	22992393	Detail
<0.001	Cor pulmonale	Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 an...	BeFree	22992393	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) AND Cystic fibrosis	ClinVar	Detail
NA	DisGeNET	Detail
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nons...	DisGeNET	Detail
We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA...	DisGeNET	Detail
Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with c...	DisGeNET	Detail
Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with c...	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: rs74597325 dbSNP
Genome: hg19
Position: chr7:117,227,865-117,227,865
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser