NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000426187.1
Allele description [Variation Report for NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)]
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
beta-tubulin, partial [Thelonectria spinulospora]
beta-tubulin, partial [Thelonectria spinulospora]gi|2326645835|gb|UZG75447.1|Protein
-
UDP-N-acetyl-D-mannosamine dehydrogenase [Klebsiella pneumoniae]
UDP-N-acetyl-D-mannosamine dehydrogenase [Klebsiella pneumoniae]gi|2809316647|gnl|PRJNA1160922|ACE3 280|gb|XHG16351.1|Protein
-
Rattus norvegicus polyhomeotic homolog 3 (Phc3), mRNA
Rattus norvegicus polyhomeotic homolog 3 (Phc3), mRNAgi|157817926|ref|NM_001107662.1|Nucleotide
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Last Updated: Feb 20, 2024