All variants in the CITED1 gene

Information The variants shown are described using the NM_004143.3 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     
?/. - c.288C>G r.(?) p.(His96Gln) - VUS g.71521867G>C g.72302017G>C - - CITED1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.288C>G r.(?) p.(His96Gln) - VUS g.71521867G>C g.72302017G>C - - CITED1_000001 - - - - Germline - - - - - Yu Sun
?/. 3 c.288C>G r.(?) p.(His96Gln) - VUS g.71521867G>C g.72302017G>C H96Q - CITED1_000001 recurrent, found 46 times PubMed: Tarpey 2009 - - Germline - 46/208 cases - 0 - Lucy Raymond
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