Full data view for gene CDKN1C

Information The variants shown are described using the NM_000076.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 1 c.105del r.(?) p.(Pro36ArgfsTer7) I Maternal (confirmed) - pathogenic g.2906617del g.2885387del - - CDKN1C_000011 - PubMed: Lee 1997 - - Germline yes - - - - DNA SEQ ? - BWS - PubMed: Lee 1997 - - ? - ? - - - - 1 Eamonn Maher
+?/. 1 c.105del r.(?) p.(Pro36Argfs*7) - Maternal (confirmed) - likely pathogenic g.2906617del g.2885387del - - CDKN1C_000011 - Mussa A, Russo S* submitted ESHG - - Germline - - - - - DNA SEQ - - BWS - - - - - Italy - - - - - 1 Silvia Russo
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