Full data view for gene CEP250

Information The variants shown are described using the NM_007186.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 26 c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic g.34085704C>T g.35497875C>T - - CEP250_000024 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - F yes Israel Iran;Jewish - - - - 6 Dror Sharon
+/. - c.3463C>T r.(?) p.(Arg1155*) Unknown ACMG pathogenic g.34085704C>T - - - CEP250_000024 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 variant linked to hearing loss and RP PubMed: Khateb 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? MOL0028PatII3/4/7 PubMed: Khateb 2014 3 affected sibs (2F, M) - - Iran Jewish - - - - 3 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 variant linked to hearing loss and RP PubMed: Khateb 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? MOL0028PatII1/5/6 PubMed: Khateb 2014 3 affected sibs (F, 2M) F;M yes Iran Jewish - - - - 3 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Parent #1 - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 - PubMed: Khateb 2014 - - Germline - - - - - DNA SEQ - - ? MOL0028PatII2 PubMed: Khateb 2014 1 affected M yes Iran Jewish - - - - 1 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Parent #1 - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 - PubMed: Khateb 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? MOL0028PatI PubMed: Khateb 2014 father M yes Iran Jewish - - - - 1 Johan den Dunnen
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