Unique variants in gene CTRC

Information The variants shown are described using the NM_007272.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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.649G>A likely pathogenic r.(?) p.(Gly217Ser) g.15772101G>A - CTRC:NM_00727.2:c.649G>A (Gly217Ser) - CTRC_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend