Full data view for gene CD99

Information The variants shown are described using the NM_002414.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-?/. 8 c.363C>T r.(?) p.(Ala121=) Maternal (inferred) - likely benign g.2644302C>T g.2726261C>T A121A - CD99_000001 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 10 Johan den Dunnen
?/. 9 c.493G>A r.(?) p.(Asp165Asn) Maternal (inferred) - VUS g.2656258G>A g.2738217G>A - - CD99_000002 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Johan den Dunnen
?/. 9 c.496A>G r.(?) p.(Met166Val) Maternal (inferred) - VUS g.2656261A>G g.2738220A>G - - CD99_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Johan den Dunnen
?/. 9 c.518A>T r.(?) p.(Asn173Ile) Maternal (inferred) - VUS g.2656283A>T g.2738242A>T - - CD99_000004 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Johan den Dunnen
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