NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu) AND Multiple congenital anomalies-hypotonia-seizures syndrome 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002675916.1
Allele description [Variation Report for NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu)]
NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu)
Condition(s)
-
BioSample links for Nucleotide (Select 981280445) (1)
BioSample
-
Pathogen: environmental/food/other sample from Burkholderia vietnamiensis
Pathogen: environmental/food/other sample from Burkholderia vietnamiensisbiosample
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Last Updated: Nov 25, 2023