Full data view for gene C12orf55

NOTE: gene name changed from C12orf55 to CFAP54
Information The variants shown are described using the NM_001306084.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

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     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.878G>A r.(?) p.(Arg293His) Paternal (confirmed) - pathogenic (recessive) g.96912785G>A g.96519007G>A - - C12orf55_000001 - PubMed: Tian 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM FamYT558 PubMed: Tian 2023 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. - c.937G>A r.(?) p.(Gly313Arg) Maternal (confirmed) - pathogenic (recessive) g.96912844G>A g.96519066G>A - - C12orf55_000002 - PubMed: Tian 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM FamYT698 PubMed: Tian 2023 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. - c.955C>T r.(?) p.(Arg319Cys) Maternal (confirmed) - pathogenic (recessive) g.96915647C>T g.96521869C>T - - C12orf55_000003 - PubMed: Tian 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM FamYT558 PubMed: Tian 2023 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. - c.3317del r.(?) p.(Phe1106SerfsTer19) Both (homozygous) - pathogenic (recessive) g.96986372del g.96592594del - - C12orf55_000004 - PubMed: Tian 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM FamXH008 PubMed: Tian 2023 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. - c.4885C>T r.(?) p.(Arg1629Cys) Paternal (confirmed) - pathogenic (recessive) g.97045378C>T g.96651600C>T - - C12orf55_000005 - PubMed: Tian 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM FamYT698 PubMed: Tian 2023 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.6661C>G r.(?) p.(Pro2221Ala) Unknown - likely benign g.97102518C>G - CFAP54(NM_001306084.2):c.6661C>G (p.(Pro2221Ala)) - C12orf55_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9094G>A r.(?) p.(Glu3032Lys) Unknown - likely benign g.97211689G>A - CFAP54(NM_001306084.2):c.9094G>A (p.(Glu3032Lys)) - C12orf55_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.