An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001243279.3(ACSF3):c.1367-464C>T | Single nucleotide variant | Chr16:89144803 | Uncertain significance | Intron variant | rs2151560692 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) | Single nucleotide variant | Chr16:89145312 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs387907119 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) | Single nucleotide variant | Chr4:145639572 | Pathogenic/Likely pathogenic | Nonsense | rs104893851 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| 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