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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+?/? 4 c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - likely pathogenic g.89885848C>G g.89492071C>G - - POC1B_000001 - - - rs76216585 Germline yes - - 0 - DNA SEQ-NG-I peripheral blood - JBTS1 - - - M yes Iraq - - 0 - - 1 Hanno Bolz
+?/. - c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic g.89885848C>G g.89492071C>G - - POC1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g. 89492071C>G g.89492071C>G - POC1B_000001 not in 113 control individuals PubMed: Durlu 2014 - - Germline yes - - 0 - DNA SEQ Blood - CORD20 FamPat305 PubMed: Durlu 2014 4-generation family, 4 affected (3F, M) F yes Turkey - >61y 0 - - 4 Najlae Akhiyate
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y 0 - - 3 Jens Doets
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII3 PubMed: Roosing 2014, Journal: Roosing 2014 sister F no Turkey - - 0 - - 1 Jens Doets
+/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - DNA SEQ blood WES CORD FamAPatII4 PubMed: Roosing 2014, Journal: Roosing 2014 brother M no Turkey - >09y 0 - - 1 Jens Doets
+?/. - c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline yes - - 0 - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - 5 Johan den Dunnen
?/. - c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - VUS g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Beck 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - 5 Johan den Dunnen
+/. 4 c.317G>C r.(?) p.(Arg106Pro) Both (homozygous) - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Birtel 2018 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease Pat120 PubMed: Birtel 2018 family F - Germany - - 0 - - 1 LOVD
+?/. 4 c.317G>C r.(?) p.(Arg106Pro) Unknown - likely pathogenic g.89885848C>G g.89492071C>G POC1B c.317G>C, p.Arg106Pro - POC1B_000001 heterozygous PubMed: Gliem 2020 - - Unknown ? - - 0 - DNA SEQ-NG-I blood whole exome sequencing retinal disease 141 PubMed: Gliem 2020 - F - (Germany) - - 0 - - 1 LOVD
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