NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu) AND Intellectual disability, autosomal dominant 40
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001333846.1
Allele description [Variation Report for NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu)]
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu)
Condition(s)
-
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform ...
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1 [Mus musculus]gi|568907977|ref|XP_006529119.1|Protein
-
Homo sapiens mRNA; cDNA DKFZp547C176 (from clone DKFZp547C176)
Homo sapiens mRNA; cDNA DKFZp547C176 (from clone DKFZp547C176)gi|8655668|emb|AL359601.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023