NM_001012759.3(CTU2):c.550C>T (p.Gln184Ter) AND Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003145914.3
Allele description [Variation Report for NM_001012759.3(CTU2):c.550C>T (p.Gln184Ter)]
NM_001012759.3(CTU2):c.550C>T (p.Gln184Ter)
Condition(s)
-
Intellectual disability, X-linked 61
Intellectual disability, X-linked 61MedGen
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SNHG17 small nucleolar RNA host gene 17 [Homo sapiens]
SNHG17 small nucleolar RNA host gene 17 [Homo sapiens]Gene ID:388796Gene
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Gene Links for GEO Profiles (Select 121752677) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024