ANKRD31 Chromosome 5
Ankyrin repeat domain 31
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What This Gene Does
This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000145700
Associated Conditions (2)
ANKRD31-related disorder
Genetic non-acquired premature ovarian failure
Key Variants
RS150791065
Conflicting classifications of pathogenicity
ANKRD31-related disorder, ANKRD31-related disorder
Health Risk
RS1463928941
Pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS2150188446
Pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150791065 | Health Risk | Conflicting classifications of pathogenicity | ANKRD31-related disorder, ANKRD31-related disorder |
| RS1463928941 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2150188446 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |