NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) AND Hypoparathyroidism, deafness, renal disease syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001106310.4
Allele description [Variation Report for NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)]
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)
Condition(s)
- Name:
- Hypoparathyroidism, deafness, renal disease syndrome (HDRS)
- Synonyms:
- Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007797; MedGen: C1840333; Orphanet: 2237; OMIM: 146255
-
prominin-1 isoform s1 precursor [Mus musculus]
prominin-1 isoform s1 precursor [Mus musculus]gi|254675296|ref|NP_032961.2|Protein
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Last Updated: Oct 8, 2024