Full data view for gene CRYBA1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005208.4 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     
-/. 2i c.? r.(?) p.(=) Unknown - benign g.? - IVS2+73T>G - CRYBA1_000000 - PubMed: Burdon 2004 - - Germline - - - - - DNA SSCA, SEQ - - Healthy/Control - - - - - Australia European - - - - 1 Johan den Dunnen
?/. - c.31+4A>G r.spl? p.? Unknown - VUS g.27573916A>G - CRYBA1(NM_005208.5):c.31+4A>G - CRYBA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Pro25Leu) Parent #1 - benign g.27576202C>T g.29249184C>T - - CRYBA1_000021 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142631461 Germline - 17/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-?/. - c.173G>A r.(?) p.(Arg58His) Unknown - likely benign g.27577276G>A g.29250258G>A CRYBA1(NM_005208.4):c.173G>A (p.R58H) - CRYBA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.213C>T r.spl p.(Gly71=) Both (homozygous) - pathogenic g.27577316C>T g.29250298C>T - - CRYBA1_000011 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected paternal great uncle M yes - - - - - - 2 Johan den Dunnen
+/. 3i c.215+1G>A r.97_357del p.Ile33_Ala119del Parent #1 - pathogenic g.27577319G>A g.29250301G>A IVS3+1G>A - CRYBA1_000001 not in 140 control chromosomes PubMed: Kannabiran 1998, OMIM:var0001, Kannabiran C, Invest.Ophthal.Vis.Sci. 40: S786 (1999) - - Germline - - NlaIII+ - - DNA SEQ - - CTRCT - PubMed: Basti 1996 3-generation family, 10 affecteds - - India - - - - - 10 Lars Hansen
+/. 3i c.215+1G>A r.spl? p.(del) Parent #1 - pathogenic g.27577319G>A g.29250301G>A IVS3+1G>A - CRYBA1_000001 not in 200 control chromosomes PubMed: Devi 2008 - - Germline - - NlaIII+ - - DNA SEQ - - CTRCT - - 4-generation family, 18 affecteds - - India - - - - - 18 Johan den Dunnen
+/. 3i c.215+1G>A r.spl? p.(del) Parent #1 - pathogenic g.27577319G>A g.29250301G>A 474G>A - CRYBA1_000001 mapped by linkage; not in 100 control chromosomes PubMed: Gu 2010 - - Germline - - NlaIII+ - - DNA SEQ - - CTRCT - - 4-generation family, 19 affecteds - - China - - - - - 9 Johan den Dunnen
+/. 3i c.215+1G>A r.spl? p.(del) Parent #1 - pathogenic g.27577319G>A g.29250301G>A IVS3+1G>A - CRYBA1_000001 mapped by linkage; not in 100 control chromosomes PubMed: Burdon 2004 - - Germline - - - - - DNA SSCA, SEQ - - CTRCT - - 4-generation family, 21 affecteds - - Australia European - - - - 21 Johan den Dunnen
+/. 3i c.215+1G>A r.spl? p.(del) Parent #1 - pathogenic g.27577319G>A g.29250301G>A IVS3+1G>A - CRYBA1_000001 not in 200 control chromosomes PubMed: Devi 2008 - - Germline - - NlaIII+ - - DNA SEQ - - CTRCT - - 4-generation family, 13 affecteds - - India - - - - - 13 Johan den Dunnen
+/. 3i c.215+1G>A r.spl p.? Parent #1 - pathogenic g.27577319G>A g.29250301G>A - - CRYBA1_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother and brother F no - - - - - - 3 Johan den Dunnen
+/. 3i c.215+1G>A r.spl p.? Parent #1 - pathogenic g.27577319G>A g.29250301G>A - - CRYBA1_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected father and sister F no - - - - - - 3 Johan den Dunnen
+/. 3i c.215+1G>C r.spl? p.(del) Parent #1 - pathogenic g.27577319G>C g.29250301G>C IVS3+1G>C - CRYBA1_000002 mapped by linkage PubMed: Bateman 2000 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 13 affecteds - - Brazil - - - - - 13 Johan den Dunnen
+?/. - c.215+2T>A r.spl p.(?) Unknown ACMG likely pathogenic g.27577320T>A g.29250302T>A CRYBA1 c.215+2T>A het - CRYBA1_000024 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 16026011 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.215+2T>C r.spl p.(?) Unknown ACMG VUS g.27577320T>C g.29250302T>C CRYBA1 c.215+2T>C het - CRYBA1_000023 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15016254 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.215+5G>C r.spl? p.? Maternal (confirmed) - likely pathogenic g.27577323G>C g.29250305G>C CRYBA1 c.215+5G>C, p.(Glu161Gln) - CRYBA1_000025 heterozygous, present in unaffected mother (non-penetrant) PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 42 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
-/. 3i c.215+16C>T r.(?) p.(=) Unknown - benign g.27577334C>T g.29250316C>T IVS3+16C>T - CRYBA1_000007 - PubMed: Burdon 2004 - - Germline - - - - - DNA SSCA, SEQ - - Healthy/Control - - - - - Australia European - - - - 1 Johan den Dunnen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 271_273delGGA - CRYBA1_000003 mapped by linkage PubMed: Qi 2003, PubMed: 14598164, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 14 affecteds - - China - - - - - 14 Johan den Dunnen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 271_273delGGA - CRYBA1_000003 mapped by linkage PubMed: Reddy 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CTRCT - - 6-generation family, 20 affecteds - - United Kingdom (Great Britain) - - - - - 20 Lars Hansen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 279_281delGGA - CRYBA1_000003 mapped by linkage; not in 200 control chromosomes PubMed: Lu 2007 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 9 affecteds - - China - - - - - 9 Johan den Dunnen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 279_281delGGA - CRYBA1_000003 mapped by linkage; not in 200 control chromosomes PubMed: Lu 2007 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 5 affecteds - - China - - - - - 5 Johan den Dunnen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 279_281del - CRYBA1_000003 mapped by linkage (LOD >3.0); not in 500 control chromosomes PubMed: Ferrini 2004 - - Germline - - - - - DNA DHPLC, SEQ - - CTRCT - - 5-generation family, 14 affecteds - - Switzerland - - - - - 14 Johan den Dunnen
+/. 4 c.272_274del r.(?) p.(Gly91del) Parent #1 - pathogenic g.27579138_27579140del g.29252120_29252122del 269_271delGAG - CRYBA1_000013 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother, maternal grandfather, maternal cousins M no - - - - - - 4 Johan den Dunnen
+?/. - c.272_274del r.(?) p.(Gly91del) Parent #1 - likely pathogenic g.27579138_27579140del g.29252120_29252122del - - CRYBA1_000003 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 4 c.346A>T r.(?) p.(Ile116Phe) Unknown - VUS g.27579212A>T g.29252194A>T - - CRYBA1_000009 - - - rs1129656 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/. - c.426dup r.(?) p.(Asp143*) Unknown - pathogenic g.27580726dup - - - CRYBA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.456C>T r.(?) p.(=) Unknown - benign g.27580756C>T g.29253738C>T codon152C>T - CRYBA1_000006 - PubMed: Burdon 2004 - rs1047790 Germline - - - - - DNA SSCA, SEQ - - Healthy/Control - - - - - Australia European - - - - 1 Johan den Dunnen
-/. 5 c.456C>T r.(?) p.(=) Parent #1 - benign g.27580756C>T g.29253738C>T - - CRYBA1_000006 - PubMed: Bateman 2000 - rs1047790 Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 13 affecteds - - Brazil - - - - - 13 Johan den Dunnen
-/. 5 c.456C>T r.(?) p.(=) Parent #1 - benign g.27580756C>T g.29253738C>T - - CRYBA1_000006 mapped by linkage; not in 200 control chromosomes PubMed: Lu 2007 - rs1047790 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 9 affecteds - - China - - - - - 9 Johan den Dunnen
-/. 5 c.456C>T r.(?) p.(=) Parent #1 - benign g.27580756C>T g.29253738C>T - - CRYBA1_000006 mapped by linkage; not in 200 control chromosomes PubMed: Lu 2007 - rs1047790 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 5 affecteds - - China - - - - - 5 Johan den Dunnen
-/. - c.456C>T r.(?) p.(Gly152=) Unknown - benign g.27580756C>T g.29253738C>T CRYBA1(NM_005208.5):c.456C>T (p.G152=) - CRYBA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456C>T r.(?) p.(Gly152=) Unknown - benign g.27580756C>T - CRYBA1(NM_005208.5):c.456C>T (p.G152=) - CRYBA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.475G>A r.(?) p.(Gly159Ser) Unknown - likely benign g.27580775G>A g.29253757G>A - - CRYBA1_000010 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - CTRCT - - - - - Australia - - - - - 1 Ivan Prokudin
-?/. - c.475G>A r.(?) p.(Gly159Ser) Unknown - likely benign g.27580775G>A g.29253757G>A CRYBA1(NM_005208.4):c.475G>A (p.G159S) - CRYBA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475G>A r.(?) p.(Gly159Ser) Parent #1 - benign g.27580775G>A g.29253757G>A - - CRYBA1_000010 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117757092 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
+?/. - c.475G>A r.(?) p.(Gly159Ser) Unknown ACMG likely pathogenic g.27580775G>A g.29253757G>A CRYBA1 c.475G>A p.(Gly159Ser) het - CRYBA1_000010 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 14017471 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.500+1G>C r.spl? p.? Unknown - likely pathogenic g.27580801G>C - CRYBA1(NM_005208.5):c.500+1G>C - CRYBA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.500+1G>C r.spl? p.? Unknown - likely pathogenic g.27580801G>C - CRYBA1(NM_005208.5):c.500+1G>C - CRYBA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.501-9A>G r.(=) p.(=) Unknown - VUS g.27581211A>G g.29254193A>G CRYBA1(NM_005208.4):c.501-9A>G - CRYBA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.501-3T>C r.(?) p.(=) Parent #1 - benign g.27581217T>C g.29254199T>C - - CRYBA1_000005 - PubMed: Bateman 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Brazil - - - - - 1 Johan den Dunnen
-/. 5i c.501-3T>C r.(?) p.(=) Parent #1 - benign g.27581217T>C g.29254199T>C - - CRYBA1_000005 - PubMed: Bateman 2000 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 13 affecteds - - Brazil - - - - - 13 Johan den Dunnen
+/. 6 c.(502T>A) r.[=502u>a, 501_503del] p.[Trp168Arg, Trp168del] Parent #1 - pathogenic g.27581221T>A g.29254203T>A mouse, ENU induced - CRYBA1_000000 30% mRNA 3 nt deletion PubMed: Graw 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - {PMID10585769:Graw 1999} - - - - (not applicable) - - - - - 1 Johan den Dunnen
?/. 6 c.521C>T r.(?) p.(Pro174Leu) Unknown - VUS g.27581240C>T g.29254222C>T - - CRYBA1_000008 - - - rs1129658 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+?/. - c.528T>G r.(?) p.(Tyr176*) Unknown - likely pathogenic g.27581247T>G g.29254229T>G c.528T-->G; p.Tyr176* - CRYBA1_000022 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CTRCT10 187 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 6 c.590_591del r.(?) p.(Glu197Valfs*22) Parent #1 - pathogenic g.27581309_27581310del g.29254291_29254292del 590_591delAG - CRYBA1_000014 - PubMed: Zhang 2014, Journal: Zhang 2014 - - Germline yes - - - - DNA PCR - - CCTRCT 24926697-FamPatIV3 PubMed: Zhang 2014, Journal: Zhang 2014 4-generation family, 5 affecteds (3F, 2M) F no China Chinese - - - - 5 Jamie Zeegers
+/. 6 c.594G>A r.(?) p.(Trp198*) Paternal (confirmed) - pathogenic (dominant) g.27581313G>A g.29254295G>A - - CRYBA1_000015 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - - - DNA SEQ-NG - - SORD NYS-008 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 3 affected (2F, M) F;M - United Kingdom (Great Britain) - - - - - 1 Mervyn Thomas
+/. - c.607_608del r.(?) p.(Gln203Aspfs*16) Unknown - pathogenic g.27581326_27581327del g.29254308_29254309del - - CRYBA1_000017 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 931 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. 6 c.626C>G r.(?) p.(Ser209Trp) Parent #1 - likely pathogenic g.27581345C>G g.29254327C>G - - CRYBA1_000012 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected daughter M no - - - - - - 2 Johan den Dunnen
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