NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg) AND DIS3-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003976226.1
Allele description
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg)
Condition(s)
- Name:
- DIS3-related disorder
- Synonyms:
- DIS3-related condition
- Identifiers:
-
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit...
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform X1 [Ictalurus punctatus]gi|1042370024|ref|XP_017329228.1|Protein
-
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit...
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform X5 [Astyanax mexicanus]gi|2274596248|ref|XP_007228506.2|Protein
-
homo sapiens[Organism] AND PPFIA3 AND (alive[prop]) (44)
Gene
-
TSA: Pan troglodytes Chimpanzee_0072387 mRNA sequence
TSA: Pan troglodytes Chimpanzee_0072387 mRNA sequencegi|410308653|gb|GABD01000173.1||gnl GABD01|Chimpanzee_0072387Nucleotide
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See more...Assertion and evidence details
Last Updated: May 26, 2024