Unique variants in gene TIMP2

Information The variants shown are described using the NM_003255.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.131-11702A>G - - p.(=) g.76881703T>C g.78885621T>C - - TIMP2_000001 - - - - Germline - - - - - Yu Sun
./. 1 - c.303G>A - r.(=) p.(=) g.76867017C>T g.78870935C>T - - TIMP2_000002 for details see the Uveogene database PubMed: Lee 2012 - rs2277698 Germline - 76/502 cases - - - Peizeng Yang
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