Full data view for gene MSH6

Information The variants shown are described using the NM_000179.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

Allele     

DNA change (genomic) (hg38)     

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DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

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Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

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Cuadro familiar     

Panel size     

Owner     
-/-? 4 c.1526T>C r.(?) p.(Val509Ala) Hetero MLH1 - Unknown g.47799509T>C - MSH6_000025 - - DNA SEQ-NG 27-nov-2017 Genia - - -- Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-?/-? 4 c.1526T>C r.(?) p.(Val509Ala) Hetero no - Unknown g.47799509T>C - MSH6_000025 - - DNA CNV, SEQ-NG 5-apr-2019 Héritas Panel (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NF1, MLH1, MSH2, MSH6, PMS2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, EPCAM) Multigenetic panel - Ashkenazi-Russian - - - 1 Laura Vargas Roig-IMBECU
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