Unique variants in the CD99 gene

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Reported     

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     
-?/. 1 8 c.363C>T r.(?) p.(Ala121=) - likely benign g.2644302C>T g.2726261C>T A121A - CD99_000001 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - Lucy Raymond
?/. 1 9 c.493G>A r.(?) p.(Asp165Asn) - VUS g.2656258G>A g.2738217G>A - - CD99_000002 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 1 9 c.496A>G r.(?) p.(Met166Val) - VUS g.2656261A>G g.2738220A>G - - CD99_000003 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 1 9 c.518A>T r.(?) p.(Asn173Ile) - VUS g.2656283A>T g.2738242A>T - - CD99_000004 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
Legend   How to query