NM_000516.7(GNAS):c.967G>C (p.Asp323His) AND Pseudohypoparathyroidism type I A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003444501.1
Allele description [Variation Report for NM_000516.7(GNAS):c.967G>C (p.Asp323His)]
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
Condition(s)
- Name:
- Pseudohypoparathyroidism type I A (PHP1A)
- Synonyms:
- PHP IA; Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy with multiple hormone resistance; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007078; MedGen: C3494506; OMIM: 103580
-
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Last Updated: Dec 9, 2023