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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 3 c.471G>A - r.(?) p.(Trp157*) Paternal (confirmed) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111-FamPatII7 PubMed: Guo 2012 4-generation family, 6-affecteds (4F,2M), PatII7 M - China Chinese >08y 0 - - 6 Jamie Zeegers
+/. 3 c.471G>A - r.(?) p.(Trp157*) Parent #1 g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111FamPatI2 PubMed: Guo 2012 PatI2 M - China Chinese >68y 0 - - 1 Jamie Zeegers
+/. 3 c.471G>A - r.(?) p.(Trp157*) Paternal (confirmed) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111FamPatIII6 PubMed: Guo 2012 PatIII6 F - China Chinese - 0 - - 1 Jamie Zeegers
+/. 3 c.471G>A - r.(?) p.(Trp157*) Maternal (confirmed) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111-FamPatIV1 PubMed: Guo 2012 PatIV1 F - China Chinese >01y 0 - - 1 Jamie Zeegers
+/. 3 c.471G>A - r.(?) p.(Trp157*) Paternal (confirmed) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111-FamPatII2 PubMed: Guo 2012 PatII2 F - China Chinese >13y 0 - - 1 Jamie Zeegers
+/. 3 c.471G>A - r.(?) p.(Trp157*) Maternal (confirmed) g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - DNA PCR - - CCTRCT 22876111-FamPatIII3 PubMed: Guo 2012 PatIII3 F - China Chinese >06y 0 - - 1 Jamie Zeegers
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