Full data view for gene CIB2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006383.3 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     
+/. 3 c.97C>T r.(?) p.(Arg33*) Parent #1 - pathogenic g.78403608G>A g.78111266G>A - - CIB2_000006 - - - - Germline - - - - - DNA PCR - - DFNB48 - - - - - Netherlands - - - - - 1 Helger Yntema
+?/. - c.97C>T r.(?) p.(Arg33*) Maternal (confirmed) - likely pathogenic g.78403608G>A g.78111266G>A - - CIB2_000006 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness Fam07-1069 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F no Netherlands - - - - - 1 Mieke Wesdorp
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A g.78111266G>A CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A g.78111266G>A CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A - CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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