NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) AND Short stature
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 18, 2001
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000736150.3
Allele description [Variation Report for NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)]
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)
Condition(s)
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
-
Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA
Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNAgi|1889523891|ref|NM_002527.5|Nucleotide
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Last Updated: Oct 8, 2024