Methylmalonic aciduria, cblB type
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
3
Pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_052845.4(MMAB):c.571C>G (p.Arg191Gly) | Single nucleotide variant | Chr12:109561053 | Likely pathogenic | Missense variant|non-coding transcript variant | rs376128990 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_052845.4(MMAB):c.572G>C (p.Arg191Pro) | Single nucleotide variant | Chr12:109561052 | Likely pathogenic | Missense variant|non-coding transcript variant | rs746219370 |
.Lifecell International Pvt. Ltd |
| NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) | Single nucleotide variant | Chr12:109561044 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2136198139 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_052845.4(MMAB):c.197-1G>T | Single nucleotide variant | Chr12:109568864 | Pathogenic | Splice acceptor variant | rs763935916 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution