Unique variants in the CRYBA1 gene

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.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 2i c.? r.(?) p.(=) - benign g.? - IVS2+73T>G - CRYBA1_000000 - PubMed: Burdon 2004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.31+4A>G r.spl? p.? - VUS g.27573916A>G - CRYBA1(NM_005208.5):c.31+4A>G - CRYBA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.74C>T r.(?) p.(Pro25Leu) - 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 - - - Mohammed Faruq
-?/. 1 - c.173G>A r.(?) p.(Arg58His) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.213C>T r.spl p.(Gly71=) - pathogenic g.27577316C>T g.29250298C>T - - CRYBA1_000011 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
+/. 7 3i c.215+1G>A r.97_357del, r.spl, r.spl? p.(del), p.?, p.Ile33_Ala119del - pathogenic g.27577319G>A g.29250301G>A 474G>A, IVS3+1G>A - CRYBA1_000001 mapped by linkage; not in 100 control chromosomes, not in 140 control chromosomes, 1 more item PubMed: Burdon 2004, PubMed: Devi 2008, PubMed: Gillespie 2014, Journal: Gillespie 2014, 2 more items - - Germline - - NlaIII+ - - Johan den Dunnen, Lars Hansen
+/. 1 3i c.215+1G>C r.spl? p.(del) - pathogenic g.27577319G>C g.29250301G>C IVS3+1G>C - CRYBA1_000002 mapped by linkage PubMed: Bateman 2000 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.215+2T>A r.spl p.(?) ACMG likely pathogenic g.27577320T>A g.29250302T>A CRYBA1 c.215+2T>A het - CRYBA1_000024 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
?/. 1 - c.215+2T>C r.spl p.(?) ACMG VUS g.27577320T>C g.29250302T>C CRYBA1 c.215+2T>C het - CRYBA1_000023 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
+?/. 1 - c.215+5G>C r.spl? p.? - 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 - - - - LOVD
-/. 1 3i c.215+16C>T r.(?) p.(=) - benign g.27577334C>T g.29250316C>T IVS3+16C>T - CRYBA1_000007 - PubMed: Burdon 2004 - - Germline - - - - - Johan den Dunnen
+/., +?/. 7 4 c.272_274del r.(?) p.(Gly91del) - likely pathogenic, pathogenic g.27579138_27579140del g.29252120_29252122del 269_271delGAG, 271_273delGGA, 279_281del, 279_281delGGA - CRYBA1_000003, CRYBA1_000013 mapped by linkage, mapped by linkage (LOD >3.0); not in 500 control chromosomes, 2 more items PubMed: Ferrini 2004, PubMed: Gillespie 2014, Journal: Gillespie 2014, PubMed: Lu 2007, 3 more items - - Germline - 1/181 individuals - - - Johan den Dunnen, Lars Hansen
?/. 1 4 c.346A>T r.(?) p.(Ile116Phe) - VUS g.27579212A>T g.29252194A>T - - CRYBA1_000009 - - - rs1129656 Germline - - - - - Johan den Dunnen
+/. 1 - c.426dup r.(?) p.(Asp143*) - pathogenic g.27580726dup - - - CRYBA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 6 5 c.456C>T r.(?) p.(=), p.(Gly152=) - benign g.27580756C>T g.29253738C>T codon152C>T, CRYBA1(NM_005208.5):c.456C>T (p.G152=) - CRYBA1_000006 mapped by linkage; not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Bateman 2000, PubMed: Burdon 2004, PubMed: Lu 2007 - rs1047790 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/., -/., -?/. 4 5 c.475G>A r.(?) p.(Gly159Ser) ACMG benign, likely benign, likely pathogenic g.27580775G>A g.29253757G>A CRYBA1 c.475G>A p.(Gly159Ser) het, CRYBA1(NM_005208.4):c.475G>A (p.G159S) - CRYBA1_000010 11 heterozygous, no homozygous; Clinindb (India), heterozygous, VKGL data sharing initiative Nederland PubMed: Lenassi 2020, PubMed: Narang 2020, Journal: Narang 2020 - rs117757092 CLASSIFICATION record, Germline ? 11/2795 individuals - - - Ivan Prokudin, VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 2 - c.500+1G>C r.spl? p.? - likely pathogenic g.27580801G>C - CRYBA1(NM_005208.5):c.500+1G>C - CRYBA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.501-9A>G r.(=) p.(=) - VUS g.27581211A>G g.29254193A>G CRYBA1(NM_005208.4):c.501-9A>G - CRYBA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 5i c.501-3T>C r.(?) p.(=) - benign g.27581217T>C g.29254199T>C - - CRYBA1_000005 - PubMed: Bateman 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.(502T>A) r.[=502u>a, 501_503del] p.[Trp168Arg, Trp168del] - pathogenic g.27581221T>A g.29254203T>A mouse, ENU induced - CRYBA1_000000 30% mRNA 3 nt deletion PubMed: Graw 1999 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.521C>T r.(?) p.(Pro174Leu) - VUS g.27581240C>T g.29254222C>T - - CRYBA1_000008 - - - rs1129658 Germline - - - - - Johan den Dunnen
+?/. 1 - c.528T>G r.(?) p.(Tyr176*) - likely pathogenic g.27581247T>G g.29254229T>G c.528T-->G; p.Tyr176* - CRYBA1_000022 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - LOVD
+/. 1 6 c.590_591del r.(?) p.(Glu197Valfs*22) - pathogenic g.27581309_27581310del g.29254291_29254292del 590_591delAG - CRYBA1_000014 - PubMed: Zhang 2014, Journal: Zhang 2014 - - Germline yes - - - - Jamie Zeegers
+/. 1 6 c.594G>A r.(?) p.(Trp198*) - pathogenic (dominant) g.27581313G>A g.29254295G>A - - CRYBA1_000015 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - - - Mervyn Thomas
+/. 1 - c.607_608del r.(?) p.(Gln203Aspfs*16) - pathogenic g.27581326_27581327del g.29254308_29254309del - - CRYBA1_000017 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+?/. 1 6 c.626C>G r.(?) p.(Ser209Trp) - likely pathogenic g.27581345C>G g.29254327C>G - - CRYBA1_000012 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
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