NM_172250.3(MMAA):c.255del (p.Phe85fs) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470135.1
Allele description [Variation Report for NM_172250.3(MMAA):c.255del (p.Phe85fs)]
NM_172250.3(MMAA):c.255del (p.Phe85fs)
Condition(s)
- Name:
- Methylmalonic aciduria, cblA type (MACA)
- Synonyms:
- Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type; MMA cbl A type; Methylmalonic acidemia cblA type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009613; MedGen: C1855109; Orphanet: 28; Orphanet: 79310; OMIM: 251100
-
unnamed protein product [Fusarium graminearum]
unnamed protein product [Fusarium graminearum]gi|699045162|emb|CEF76149.1|Protein
-
Alismatales ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL)...
Alismatales ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast.PopSet: 374259713PopSet
-
FYB91_RS15360 [Phocaeicola dorei]
FYB91_RS15360 [Phocaeicola dorei]Gene ID:56616917Gene
-
AMC88_RS21930 [Rhizobium phaseoli]
AMC88_RS21930 [Rhizobium phaseoli]Gene ID:45959676Gene
-
OMIM Links for GEO Profiles (Select 69903312) (1)
OMIM
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024