NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) AND Adenylosuccinate lyase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001781543.4
Allele description [Variation Report for NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)]
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)
Condition(s)
-
Histone cluster 1, H3c [synthetic construct]
Histone cluster 1, H3c [synthetic construct]gi|182887829|gb|AAI60079.1|Protein
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Last Updated: Sep 29, 2024