Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 13 c.?C>A r.? p.? - Unknown - VUS g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases) - - (Germany) - - 0 - - 6 Elke Holinski-Feder
?/. 12 c.?G>A r.(?) p.(?) - Parent #1 - VUS g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - (Germany) - - 0 - - 1 Elke Holinski-Feder
?/. 12 c.?G>A r.(?) p.(?) - Parent #1 - VUS g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany no known clinic, predictive - - (Germany) - - 0 - - 1 Elke Holinski-Feder
Legend   How to query