Pseudopseudohypoparathyroidism(AHO-PPHP syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Endocrine 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 | GNAS/2778 | GNAS complex locus | 20q13.32 | Chr20, NC_000020.11 (58839748..58911192) |
71445 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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