NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) AND Hypoparathyroidism-retardation-dysmorphism syndrome
- Germline classification:
- Uncertain significance (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:
- RCV000393559.5
Allele description [Variation Report for NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)]
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)
Condition(s)
- Name:
- Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS)
- Synonyms:
- Sanjad-Sakati syndrome; HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009426; MedGen: C1855840; Orphanet: 2323; OMIM: 241410
-
Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA
Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNAgi|31377554|ref|NM_153340.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024