Full data view for gene CRYBB2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000496.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - 4-generation family, 18 affecteds (1 homozygous) - - United States - - - - - 17 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 13 affecteds - - Switzerland - - - - - 13 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 6.26); not in 200 control chromosomes PubMed: Yao 2005 - - Germline - - SpeI+ - - DNA SEQ - - CTRCT - - 5-generation family, 19 affecteds - - China - - - - - 19 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage; origin probable gene conversion with CRYBP1 PubMed: Vanita 2001, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - 5-generation family, 33 affecteds - - India - - - - - 33 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Paternal (confirmed) - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - homozygous case Fam ADCC-1 - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000 - - Germline - - - - - DNA SEQ - - CTRCT - - unrelated patient - - Switzerland - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 13 affecteds - - Switzerland - - - - - 13 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 7.95); origin probable gene conversion with CRYBP1 PubMed: Bateman 2007 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 19 affecteds - - Chile - - - - - 19 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 2.11); not in 200 control chromosomes PubMed: Li 2008 - - Germline - - - - - DNA DHPLC, SEQ - - CTRCT - PubMed: Li 2008 5-generation family, 18 affecteds - - China - - - - - 18 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 100 control chromosomes PubMed: Devi 2008 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - India - - - - - 7 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Maternal (confirmed) - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - homozygous case Fam ADCC-1 - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T (Q155*) - CRYBB2_000002 mapped by linkage (LOD score 7.95) PubMed: Bateman 2007, Journal: Bateman 2007 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT - PubMed: Bateman 2007, Journal: Bateman 2007 5-generation family, 21 affecteds (8F, 13M) F;M no Chile - - - - - 21 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.463C>T r.(?) p.(Gln155*) Unknown - likely pathogenic g.25627584C>T g.25231617C>T CRYBB2(NM_000496.2):c.463C>T(p.Q155*) - CRYBB2_000002 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 155 - - - DNA SEQ-NG-I blood - ? WHP55 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155Ter) Maternal (confirmed) - pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam16 PubMed: Zhai 2017 3-generation family, 5 affected (f< 4M) M - China - - - - - 5 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic (dominant) g.25627584C>T g.25231617C>T C463T - CRYBB2_000002 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC17PatIV1 PubMed: Zhang 2018 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam27PatI PubMed: Jackson 2020 family F - - Asia - - - - 3 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam27PatII PubMed: Jackson 2020 sib F - - Asia - - - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam27PatIII PubMed: Jackson 2020 sib M - - Asia - - - - 1 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Maternal (confirmed) ACMG pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CSA133 PubMed: Javadiyan 2017 3-generation family, affected mother/daughter F - Australia - - - - - 2 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic (dominant) g.25627584C>T g.25231617C>T - - CRYBB2_000002 - PubMed: Ma 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT Fam1 PubMed: Ma 2018 - - - China - - - - - 1 Johan den Dunnen
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