NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) AND Abetalipoproteinaemia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001147758.6
Allele description [Variation Report for NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)]
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
Condition(s)
- Name:
- Abetalipoproteinaemia (ABL)
- Synonyms:
- MTP DEFICIENCY; Abetalipoproteinemia; Bassen Kornzweig syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008692; MedGen: C0000744; Orphanet: 14; OMIM: 200100; Human Phenotype Ontology: HP:0008181
-
txid547613[Organism] (2)
Protein
-
Cypionkella collinsensis DNA gyrase subunit B (gyrB) gene, partial cds
Cypionkella collinsensis DNA gyrase subunit B (gyrB) gene, partial cdsgi|925685911|gb|KP997033.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023