Full data view for gene CFAP65

Information The variants shown are described using the NM_194302.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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VIP     

Data_av     

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Panel size     

Owner     
?/. - c.1450G>A r.(?) p.(Glu484Lys) Unknown - VUS g.219894325C>T g.219029603C>T E484K - CFAP65_000005 - PubMed: Cappi 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio ? OCD129101 PubMed: Cappi 2016 analysis 20 sporadic obsessive-compulsive disorder cases - - Brazil - - - - - 1 Johan den Dunnen
-?/. - c.1918G>C r.(?) p.(Gly640Arg) Unknown - likely benign g.219892665C>G - CFAP65(NM_194302.4):c.1918G>C (p.(Gly640Arg)) - CFAP65_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1957G>A r.(?) p.(Val653Ile) Unknown - likely benign g.219892626C>T - CFAP65(NM_194302.4):c.1957G>A (p.(Val653Ile)) - CFAP65_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2068C>T r.(?) p.(Arg690*) Unknown - pathogenic g.219892515G>A - - - CFAP65_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2083C>T r.(?) p.(Pro695Ser) Unknown - VUS g.219892500G>A - CFAP65(NM_194302.4):c.2083C>T (p.P695S) - CFAP65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2211+109C>T r.(=) p.(=) Unknown - likely benign g.219892263G>A - CFAP65(NM_001278295.1):c.2287C>T (p.(Arg763Cys)) - CFAP65_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2279G>A r.(?) p.(Arg760Gln) Unknown - likely benign g.219890814C>T - CFAP65(NM_194302.4):c.2279G>A (p.(Arg760Gln)) - CFAP65_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4419C>A r.(?) p.(Phe1473Leu) Unknown - VUS g.219874697G>T - CFAP65(NM_194302.4):c.4419C>A (p.F1473L) - CFAP65_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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