Full data view for gene CRYBB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001887.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #1 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - 10 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #1 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - 12 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #2 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - 10 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #2 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - 12 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA arraySNP, SEQ - - CTRCT Fam1 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 3 affected sibs (3M), unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam2 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam3 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 3 affected sibs (2F, M), unaffected parents F;M - Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam4 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam5 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam6 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 6 affected sibs (4F, 2M), unaffected parents F;M yes Saudi Arabia - - - - - 6 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam7 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 2 affected sibs (2M), unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam8 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam9 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam10 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 08DG00152 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG0498 PubMed: Patel 2017 family - - - - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1094 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1811 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1948 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0108 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0190 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0228 PubMed: Patel 2017 family - - - - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0243 PubMed: Patel 2017 family - - - - - - - - 4 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG0436 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del - - CRYBB1_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 13DG0323 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. - c.171delG r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Aldahmesh 2012 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-7 PubMed: Aldahmesh 2012 family - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171delG r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Aldahmesh 2012 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-8 PubMed: Aldahmesh 2012 family - - Saudi Arabia - - - - - 1 Johan den Dunnen
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