NM_015100.4(POGZ):c.358A>G (p.Met120Val) AND Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003135075.3
Allele description [Variation Report for NM_015100.4(POGZ):c.358A>G (p.Met120Val)]
NM_015100.4(POGZ):c.358A>G (p.Met120Val)
Condition(s)
-
non-POU domain-containing octamer-binding protein isoform 1 [Homo sapiens]
non-POU domain-containing octamer-binding protein isoform 1 [Homo sapiens]gi|224028246|ref|NP_001138881.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024