Full data view for gene MUTYH


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

20 entries on 1 page. Showing entries 1 - 20.
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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     

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     
-/. - c.-127C>T r.(?) p.(=) - Unknown - benign g.45806053G>A g.45340381G>A - - MUTYH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-127C>T r.(?) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - http://egp.gs.washington.edu/data/mutyh/ - rs3219466 Unknown - 0.02 - 0 - DNA SEQ - - ? - http://egp.gs.washington.edu/data/mutyh/ - - - - - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - 0 - - 1 Carli Tops
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 4/160 alleles - 0 - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-127 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - 0 - - 4 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219466 Unknown - 6/230 - 0 - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - Denmark - - 0 - - 6 Mette Gaustadnes
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - 0 - - 2 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - 0 - - 2 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HET PubMed: Zhang 2006 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls F - United States white - 0 - - 98 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HET PubMed: Zhang 2006 96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients F - United States white - 0 - - 96 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, bladder 17203305_patients_c-127_HET PubMed: Figueroa 2007 - - - Spain - - 0 - - 55 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17203305_controls_c-127_HET PubMed: Figueroa 2007 - - - Spain - - 0 - - 48 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
+/. - c.967-1G>C r.spl p.? - Unknown - pathogenic g.72182059C>G g.71269824C>G - - MUTYH_000002 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K78 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - 0 - - 2 Johan den Dunnen
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