chr7:117610610:T>C Detail (hg38) (CFTR, CFTR-AS1, LOC111674472)

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

Information

Genome

Assembly	Position
hg19	chr7:117,250,664-117,250,664 View the variant detail on this assembly version.
hg38	chr7:117,610,610-117,610,610

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.3080T>C	NP_000483.3:p.Ile1027Thr
Ensemble	ENST00000003084.11:c.3080T>C	ENST00000003084.11:p.Ile1027Thr
	ENST00000648260.1:c.1862T>C	ENST00000648260.1:p.Ile621Thr
	ENST00000649406.1:c.2897T>C	ENST00000649406.1:p.Ile966Thr
	ENST00000649781.2:c.2897T>C	ENST00000649781.2:p.Ile966Thr
	ENST00000699602.1:c.3080T>C	ENST00000699602.1:p.Ile1027Thr
	ENST00000699605.1:c.2654T>C	ENST00000699605.1:p.Ile885Thr

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
Benign Likely benign	2024-01-31	criteria provided, multiple submitters, no conflicts	cystic fibrosis	germline unknown	Detail
Benign	2012-12-18	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2023-09-26	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Pathogenic	2019-03-11	reviewed by expert panel	cystic fibrosis	germline	Detail
Likely benign	2017-08-17	criteria provided, single submitter	CFTR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) AND not specified	ClinVar	Detail
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) AND not provided	ClinVar	Detail
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C] AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) AND CFTR-related disorder	ClinVar	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: rs1800112 dbSNP
Genome: hg38
Position: chr7:117,610,610-117,610,610
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8620
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): 120906
Allele Counts in All Race (ExAC): 23
Heterozygous Counts in All Race (ExAC): 23
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.9023042694324516E-4

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