NM_001002295.2(GATA3):c.*26C>G AND Hypoparathyroidism, deafness, renal disease syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000308952.5
Allele description [Variation Report for NM_001002295.2(GATA3):c.*26C>G]
NM_001002295.2(GATA3):c.*26C>G
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
-
Sus scrofa breed Landrace nuclear factor gene, partial cds and 3' UTR
Sus scrofa breed Landrace nuclear factor gene, partial cds and 3' UTRgi|55818286|gb|AY805716.1|Nucleotide
-
CLL_RS24940 [Clostridium botulinum B str. Eklund 17B (NRP)]
CLL_RS24940 [Clostridium botulinum B str. Eklund 17B (NRP)]Gene ID:19966173Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023