NM_000112.4(SLC26A2):c.573T>C (p.Ala191=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002071614.6
Allele description [Variation Report for NM_000112.4(SLC26A2):c.573T>C (p.Ala191=)]
NM_000112.4(SLC26A2):c.573T>C (p.Ala191=)
Condition(s)
- Name:
- Achondrogenesis, type IB (ACG1B)
- Synonyms:
- Achondrogenesis Fraccaro type
- Identifiers:
- MONDO: MONDO:0010966; MedGen: C0265274; Orphanet: 932; Orphanet: 93298; OMIM: 600972
- Name:
- Atelosteogenesis type II (AO2)
- Synonyms:
- NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1; Atelosteogenesis type 2
- Identifiers:
- MONDO: MONDO:0009727; MedGen: C1850554; Orphanet: 56304; OMIM: 256050
- Name:
- Multiple epiphyseal dysplasia type 4 (EDM4)
- Synonyms:
- Multiple epiphyseal dysplasia, autosomal recessive; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009189; MedGen: C1847593; Orphanet: 93307; OMIM: 226900
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Chromosome neighbors for GEO Profiles (Select 123008419) (20)
GEO Profiles
-
Taxonomy Links for GEO Profiles (Select 66730218) (2)
Taxonomy
-
SNTG2 syntrophin gamma 2 [Homo sapiens]
SNTG2 syntrophin gamma 2 [Homo sapiens]Gene ID:54221Gene
-
Gene Links for GEO Profiles (Select 123008572) (1)
Gene
-
GRX5 monothiol glutaredoxin GRX5 [Saccharomyces cerevisiae S288C]
GRX5 monothiol glutaredoxin GRX5 [Saccharomyces cerevisiae S288C]Gene ID:856048Gene
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Last Updated: Sep 29, 2024