NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND Gordon syndrome
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Oct 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000125478.8
Allele description [Variation Report for NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)]
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
Condition(s)
- Name:
- Gordon syndrome (DA3)
- Synonyms:
- ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA; Arthrogryposis distal type 3; Arthrogryposis multiplex congenita distal type 2a; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007252; MedGen: C0220666; Orphanet: 376; OMIM: 114300
-
Homo sapiens acyl-CoA thioesterase 13 (ACOT13), transcript variant 1, mRNA
Homo sapiens acyl-CoA thioesterase 13 (ACOT13), transcript variant 1, mRNAgi|231567103|ref|NM_018473.3|Nucleotide
-
Gene Links for OMIM (Select 618765) (1)
Gene
-
ESF1 ESF1 nucleolar pre-rRNA processing protein homolog [Homo sapiens]
ESF1 ESF1 nucleolar pre-rRNA processing protein homolog [Homo sapiens]Gene ID:51575Gene
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Last Updated: Aug 18, 2024