NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) AND Hypoparathyroidism, deafness, renal disease syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000709930.2
Allele description [Variation Report for NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)]
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)
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
-
txid197[orgn] AND "strain FSIS11815403"[All Fields] (1)
BioSample
-
Pathogen: environmental/food/other sample from Campylobacter jejuni
Pathogen: environmental/food/other sample from Campylobacter jejunibiosample
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Last Updated: Aug 5, 2023