NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) AND Schwartz-Jampel syndrome
- Germline classification:
- Likely 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:
- RCV000316848.5
Allele description [Variation Report for NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)]
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
Condition(s)
-
A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) [Homo sapiens]
A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) [Homo sapiens]Gene ID:53947Gene
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Last Updated: May 26, 2024