NM_000528.4(MAN2B1):c.591C>T (p.Pro197=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001408675.7
Allele description [Variation Report for NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)]
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)
Condition(s)
- Name:
- Deficiency of alpha-mannosidase (MANSA)
- Synonyms:
- Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, alpha B lysosomal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009561; MedGen: C0024748; Orphanet: 61; OMIM: 248500
-
Homo sapiens zinc finger protein 524 (ZNF524), mRNA
Homo sapiens zinc finger protein 524 (ZNF524), mRNAgi|731441388|ref|NM_153219.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024