chr19:40692118:G>A Detail (hg38) (COQ8B)

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

Genome

Assembly	Position
hg19	chr19:41,198,023-41,198,023 View the variant detail on this assembly version.
hg38	chr19:40,692,118-40,692,118

HGVS

COQ8B

Type	Transcript	Protein
RefSeq	NM_001142555.2:c.1429C>T	NP_001136027.1:p.Arg477Cys
	NM_024876.3:c.1552C>T	NP_079152.3:p.Arg518Cys
Ensemble	ENST00000243583.10:c.1429C>T	ENST00000243583.10:p.Arg477Cys
	ENST00000324464.8:c.1552C>T	ENST00000324464.8:p.Arg518Cys
	ENST00000594490.6:c.1474C>T	ENST00000594490.6:p.Arg492Cys
	ENST00000594720.6:c.1552C>T	ENST00000594720.6:p.Arg518Cys
	ENST00000601967.6:c.1552C>T	ENST00000601967.6:p.Arg518Cys
	ENST00000677018.1:c.1552C>T	ENST00000677018.1:p.Arg518Cys
	ENST00000677496.1:c.1225C>T	ENST00000677496.1:p.Arg409Cys
	ENST00000677517.1:c.1225C>T	ENST00000677517.1:p.Arg409Cys
	ENST00000678404.1:c.1552C>T	ENST00000678404.1:p.Arg518Cys
	ENST00000678419.1:c.1552C>T	ENST00000678419.1:p.Arg518Cys
	ENST00000678467.1:c.1552C>T	ENST00000678467.1:p.Arg518Cys
	ENST00000679012.1:c.1108C>T	ENST00000679012.1:p.Arg370Cys
	ENST00000679130.1:c.1552C>T	ENST00000679130.1:p.Arg518Cys

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	Uncertain significance
Review star
Show details

Links

COQ8B

Type	Database	ID	Link
Gene	MIM	615567	OMIM
	HGNC	19041	HGNC
	Ensembl	ENSG00000123815	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5959191	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-09-02	criteria provided, multiple submitters, no conflicts	Nephrotic syndrome, type 9	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys) AND Nephrotic syndrome, type 9	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: rs746915084 dbSNP
Genome: hg38
Position: chr19:40,692,118-40,692,118
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 5224
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): 70484
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.4187617047840645E-5

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