All transcript 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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
+/. 3 c.470G>A r.(?) p.(Trp157*) - pathogenic g.208992982C>T g.208128258C>T - - CRYGC_000006 not in 200 control chromosomes PubMed: Zhang 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.470G>A r.(?) p.(Trp157Ter) - pathogenic g.208992982C>T g.208128258C>T CRYGC(NM_020989.3):c.470G>A (p.W157*) - CRYGC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.470G>A r.(?) p.(Trp157*) ACMG pathogenic g.208992982C>T g.208128258C>T - - CRYGC_000006 ACMG grading: PVS1,PM2,PP5; age at diagnosis: 56y; Svenson et al. 2001. Am J Hum Genet 68: 1077; Nantti et al. 2012. Neurosci Lett. 2: 42 - - rs398122392 Germline - - - 0 - Andreas Laner
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