NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) AND X-linked intellectual disability, Cantagrel type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332647.1
Allele description [Variation Report for NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)]
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)
Condition(s)
-
polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3 [Homo sapiens]
polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3 [Homo sapiens]gi|2462597345|ref|XP_054206066.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023