Full data view for 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.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.13A>C - r.(?) p.(Thr5Pro) Parent #1 g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CTRCT-2;CCL - PubMed: Heon 1998 4-generation family, 18 affecteds - - Switzerland;Macedonia - - 0 - - 18 Johan den Dunnen
+/. 2 c.13A>C - r.(?) p.(Thr5Pro) Parent #1 g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CTRCT-2;CCL - PubMed: Heon 1998 5-generation family, 4 affecteds - - Switzerland - - 0 - - 4 Johan den Dunnen
+/. 2 c.13A>C - r.(?) p.(Thr5Pro) Parent #1 g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 not in 430 control chromosomes PubMed: Heon 1999, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CTRCT-2;CCL - PubMed: Heon 1998 4-generation family, 3 affecteds - - Switzerland - - 0 - - 3 Johan den Dunnen
+/. 2 c.13A>C - r.(?) p.Thr5Pro Unknown g.208994404T>G g.208129680T>G - - CRYGC_000001 yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself) PubMed: Fu 2003, OMIM:var0001 - - In vitro (cloned) - - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/. 2 c.13A>C - r.(?) p.(Thr5Pro) Parent #1 g.208994404T>G g.208129680T>G 225A>C - CRYGC_000001 - - - rs104893618 Germline - - - 0 - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
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