Full data view for gene POC1B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_172240.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/. - c.1355G>A r.(?) p.(Arg452Gln) Unknown - VUS g.89815012C>T g.89421235C>T - - POC1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1355G>A r.(?) p.(Arg452Gln) Paternal (inferred) - pathogenic (recessive) g.89815012C>T g.89421235C>T G1355A - POC1B_000007 - PubMed: Kominami 2017, PubMed: Kominami 2017 - - Germline - - - 0 - DNA SEQ Blood - COD patient PubMed: Kominami 2017, PubMed: Kominami 2017 - M no Japan Japan >20y 0 - - 1 Jens Doets
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (confirmed) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline yes - - 0 - DNA SEQ - - retinal disease Fam2 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Japan - - 0 - - 2 LOVD
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (inferred) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam3 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
+/. - c.1355G>A r.(?) p.(Arg452Gln) Maternal (confirmed) - pathogenic (recessive) g.89815012C>T - - - POC1B_000007 - PubMed: Kameya 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam6 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 LOVD
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