Familial Adenomatous Polyposis(MUTYH-related attenuated familial adenomatous polyposis) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Cancer disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | APC/324 | APC regulator of WNT signaling pathway | 5q22.2 | Chr5, NC_000005.10 (112707498..112846239) |
138742 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | MUTYH/4595 | mutY DNA glycosylase | 1p34.1 | Chr1, NC_000001.11 (45329242..45340440, complement) |
11199 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | MSH3/4437 | mutS homolog 3 | 5q14.1 | Chr5, NC_000005.10 (80654652..80876815) |
222164 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | NTHL1/4913 | nth like DNA glycosylase 1 | 16p13.3 | Chr16, NC_000016.10 (2039820..2047834, complement) |
8015 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | STK11/6794 | serine/threonine kinase 11 | 19p13.3 | Chr19, NC_000019.10 (1205778..1228431) |
22654 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |