Unique variants in gene CRYGC

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020989.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.1A>G likely pathogenic r.? p.? g.208994516T>C - CRYGC:c.1A>G (M1?) - CRYGC_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1i c.10-1G>A - r.spl p.? g.208994408C>T g.208129684C>T 20899414C>T - CRYGC_000014 - - - - Germline yes - - - - Zongfu Cao
+/. 5 2 c.13A>C - r.(?) p.(Thr5Pro), p.Thr5Pro g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes, 1 more item PubMed: Heon 1999, OMIM:var0001, PubMed: Fu 2003, OMIM:var0001 - rs104893618 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/. 1 2 c.33C>T - r.(?) p.(=) g.208994384G>A g.208129660G>A A11A - CRYGC_000004 - PubMed: Santhiya 2002 - - Germline - 01/17/15 - - - Johan den Dunnen
+/. 1 2 c.119_123dup - r.(?) p.(Cys42Alafs*63) g.208994294_208994298dup g.208129570_208129574dup - - CRYGC_000002 mapped by linkage (LOD score 6.0) PubMed: Ren 2000, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.120C>T benign r.(=) p.(=) g.208994297G>A - CRYGC:c.120C>T (S40=) - CRYGC_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 2 c.124delT - r.(?) p.(Cys42Alafs*61) g.208994293delA g.208129569delA - - CRYGC_000013 - PubMed: Kondo 2013 - - Germline yes - - - - Jamie Zeegers
+?/. 1 2 c.134T>C - r.(?) p.(Leu45Pro) g.208994283A>G g.208129559A>G - - CRYGC_000011 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.143G>A - r.(?) p.(Arg48His) g.208994274C>T g.208129550C>T - - CRYGC_000004 not in 240 control chromosomes PubMed: Santhiya 2002, ESHG2010 Gonzalez-Huerta P12.034 - - Germline - 03/17/15 HgaI - - Johan den Dunnen
-?/. 1 - c.152A>G likely benign r.(?) p.(Tyr51Cys) g.208994265T>C - CRYGC:NM_006891.3:c.-5068A>G, NM_020989.3:c.152A>G - CRYGC_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.154_163del pathogenic r.(?) p.(Gln52Asnfs*48) g.208994254_208994263del - CRYGC:NM_020989.3:c.154_163del (Gln52Asnfs*48) - CRYGC_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.253-6G>A likely benign r.(=) p.(=) g.208993205C>T - CRYGC:NM_006891.3:c.-4008G>A, NM_020989.3:c.253-6G>A - CRYGC_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.317G>A likely benign r.(?) p.(Ser106Asn) g.208993135C>T - CRYGC:c.317G>A (S106N) - CRYGC_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.327C>A - r.(?) p.(Cys109*) g.208993125G>T g.208128401G>T - - CRYGC_000005 not in 100 control chromosomes PubMed: Yao 2008 - - Germline - - - - - Johan den Dunnen
-/. 1 3 c.357C>T - r.(?) p.(=) g.208993095G>A g.208128371G>A C>T S119S - CRYGC_000007 not in 100 control chromosomes; 1/11 families tested (5/7 affecteds) PubMed: Santana 2009 - - Germline - - 01/11/15 - - Johan den Dunnen
+/. 1 3 c.385G>T - r.(?) p.(Gly129Cys) g.208993067C>A g.208128343C>A - - CRYGC_000008 - - - - Germline - - - - - Lu Cailing
+/. 1 3 c.402C>G - r.(?) p.(Tyr134*) g.208993050G>C g.208128326G>C - - CRYGC_000010 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - De novo - - - - - Johan den Dunnen
+/. 2 3 c.470G>A pathogenic r.(?) p.(Trp157*) g.208992982C>T g.208128258C>T CRYGC:c.470G>A (W157*) - CRYGC_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 200 control chromosomes PubMed: Zhang 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen
+/. 6 3 c.471G>A - r.(?) p.(Trp157*) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - - - Jamie Zeegers
?/. 1 - c.473G>A VUS r.(?) p.(Gly158Glu) g.208992979C>T - CRYGC:c.473G>A (G158E) - CRYGC_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.497C>G VUS r.(?) p.(Ser166Cys) g.208992955G>C - CRYGC:NM_020989.3:c.497C>G (Ser166Cys) - CRYGC_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.497C>T - r.(?) p.(Ser166Phe) g.208992955G>A g.208128231G>A - - CRYGC_000009 - - - - Unknown - - - - - Ivan Prokudin
+/. 3 3 c.502C>T - r.(?) p.(Arg168Trp) g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Santhiya 2002, OMIM:var0003, PubMed: Gonzalez-Huerta 2007, PubMed: Devi 2008 - rs28931604 Germline - - - - - Johan den Dunnen
Legend