NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr) AND Deficiency of alpha-mannosidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003067214.3
Allele description [Variation Report for NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)]
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
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
-
Mus musculus UTP25 small subunit processome component (Utp25), transcript varian...
Mus musculus UTP25 small subunit processome component (Utp25), transcript variant 1, mRNAgi|2500537667|ref|NM_145415.3|Nucleotide
-
Rattus norvegicus similar to RIKEN cDNA 2810012L14, mRNA (cDNA clone MGC:188178 ...
Rattus norvegicus similar to RIKEN cDNA 2810012L14, mRNA (cDNA clone MGC:188178 IMAGE:7314259), complete cdsgi|165971434|gb|BC158794.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024