NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) AND Amelogenesis imperfecta type 1G
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490072.8
Allele description [Variation Report for NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)]
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)
Condition(s)
- Name:
- Amelogenesis imperfecta type 1G (AI1G)
- Synonyms:
- AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS; Amelogenesis imperfecta and nephrocalcinosis; ENAMEL-RENAL-GINGIVAL SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008771; MedGen: C2931783; Orphanet: 1031; Orphanet: 171836; OMIM: 204690
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Chromosome neighbors for GEO Profiles (Select 132353880) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 132351170) (20)
GEO Profiles
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BioProject Links for Nucleotide (Select 2697343657) (1)
BioProject
-
pheromone-regulated DUP240 family protein PRM8 [Saccharomyces cerevisiae S288C]
pheromone-regulated DUP240 family protein PRM8 [Saccharomyces cerevisiae S288C]gi|6321385|ref|NP_011462.1|Protein
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Last Updated: Sep 29, 2024