chr7:117548743:A>G Detail (hg38) (CFTR, CFTR-AS1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:117,188,797-117,188,797 View the variant detail on this assembly version.
hg38	chr7:117,548,743-117,548,743

HGVS

CFTR

Type	Transcript	Protein
RefSeq	NM_000492.3:c.1312A>G	NP_000483.3:p.Thr438Ala
Ensemble	ENST00000003084.11:c.1312A>G	ENST00000003084.11:p.Thr438Ala
	ENST00000648260.1:c.1209+6635A>G
	ENST00000649406.1:c.1209+6635A>G
	ENST00000649781.2:c.1209+6635A>G
	ENST00000699596.1:c.1312A>G	ENST00000699596.1:p.Thr438Ala
	ENST00000699597.1:c.1312A>G	ENST00000699597.1:p.Thr438Ala
	ENST00000699602.1:c.1312A>G	ENST00000699602.1:p.Thr438Ala
	ENST00000699605.1:c.966+6635A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.122
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.002

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
Uncertain significance	2018-01-13	criteria provided, single submitter	CFTR-related disorder	germline	Detail
Conflicting interpretations of pathogenicity	2018-08-31	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Uncertain significance	2021-07-22	criteria provided, single submitter	cystic fibrosis	germline	Detail
Benign	2021-07-22	criteria provided, single submitter	Hereditary pancreatitis	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND CFTR-related disorder	ClinVar	Detail
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND not provided	ClinVar	Detail
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND Cystic fibrosis	ClinVar	Detail
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND Hereditary pancreatitis	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: rs201434579 dbSNP
Genome: hg38
Position: chr7:117,548,743-117,548,743
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): LowQual
Filtering Status (HGVD): VQSRTrancheSNP99.00to99.90
# of samples (HGVD): 234
Mean of sample read depth (HGVD): 12.79
Standard deviation of sample read depth (HGVD): 25.28
Number of reference allele (HGVD): 411
Number of alternative allele (HGVD): 57
Allele Frequency (HGVD): 0.12179487179487179
Gene Symbol (HGVD): CFTR
East Asian Chromosome Counts (ExAC): 6750
East Asian Allele Counts (ExAC): 15
East Asian Heterozygous Counts (ExAC): 15
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0022222222222222222
Chromosome Counts in All Race (ExAC): 90284
Allele Counts in All Race (ExAC): 212
Heterozygous Counts in All Race (ExAC): 212
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.002348145850870586

Genome browser