chr2:219027778:G>A Detail (hg38) (CFAP65)

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

Genome

Assembly	Position
hg19	chr2:219,892,500-219,892,500 View the variant detail on this assembly version.
hg38	chr2:219,027,778-219,027,778

HGVS

CFAP65

Type	Transcript	Protein
RefSeq	NM_194302.3:c.2083C>T	NP_919278.2:p.Pro695Ser
	NM_001278295.1:c.2050C>T	NP_001265224.1:p.Pro684Ser
	NM_001278296.1:c.1888C>T	NP_001265225.1:p.Pro630Ser
Ensemble	ENST00000341552.10:c.2083C>T	ENST00000341552.10:p.Pro695Ser
	ENST00000409865.7:c.2050C>T	ENST00000409865.7:p.Pro684Ser
	ENST00000410037.5:c.1888C>T	ENST00000410037.5:p.Pro630Ser
	ENST00000441968.5:c.511C>T	ENST00000441968.5:p.Pro171Ser
	ENST00000453220.5:c.2083C>T	ENST00000453220.5:p.Pro695Ser

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	Likely benign
Review star
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Links

CFAP65

Type	Database	ID	Link
Gene	MIM	614270	OMIM
	HGNC	25325	HGNC
	Ensembl	ENSG00000181378	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv314910868	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2022-04-01	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2022-02-17	criteria provided, single submitter	CFAP65-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_194302.4(CFAP65):c.2083C>T (p.Pro695Ser) AND not provided	ClinVar	Detail
NM_194302.4(CFAP65):c.2083C>T (p.Pro695Ser) AND CFAP65-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: -
Genome: hg38
Position: chr2:219,027,778-219,027,778
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 120738
Allele Counts in All Race (ExAC): 104
Heterozygous Counts in All Race (ExAC): 104
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.613692458049661E-4

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