Full data view for gene KIT

Information The variants shown are described using the NM_000222.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
?/? 2 c.146G>A p.(Arg49his) Hetero no r.? - Unknown g.54695590G>A - KIT_000001 rs376469897 - DNA SEQ-NG 22-feb-2024 Hospital Privado Centro Médico de Córdoba Breast and ovarian cancer panel (31 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53 KIT Multigenetic panel Breast cancer Italiana/Italiana -Italiana/Italiana - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
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