NM_015937.6(PIGT):c.295T>G (p.Trp99Gly) AND Multiple congenital anomalies-hypotonia-seizures syndrome 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003040131.2
Allele description [Variation Report for NM_015937.6(PIGT):c.295T>G (p.Trp99Gly)]
NM_015937.6(PIGT):c.295T>G (p.Trp99Gly)
Condition(s)
-
multiple PDZ domain protein [Homo sapiens]
multiple PDZ domain protein [Homo sapiens]gi|4505231|ref|NP_003820.1|Protein
-
Mus musculus gamma-butyrobetaine hydroxylase 1 (Bbox1), transcript variant 1, mR...
Mus musculus gamma-butyrobetaine hydroxylase 1 (Bbox1), transcript variant 1, mRNAgi|2321693866|ref|NM_130452.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024