Full data view for gene MUTYH


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

4 entries on 1 page. Showing entries 1 - 4.
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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     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-177C>T r.(=) p.(=) - Unknown - VUS g.45806103G>A - - - MUTYH_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-177C>T r.(=) p.(=) - Parent #1 - VUS g.45806103G>A - - - MUTYH_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - F - (Netherlands) - - 0 - - 1 Carli Tops
-?/. - c.-177T>C r.(?) p.(=) - Unknown - likely benign g.45806103A>G g.45340431A>G - - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1338_1346del r.(?) p.(Asn446_Tyr448del) - Unknown - pathogenic g.72128947_72128955del g.71216712_71216720del - - MUTYH_000001 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K145 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - 0 - - 2 Johan den Dunnen
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