Pyruvate carboxylase deficiency
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
2
Pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_022172.2(PC):c.[2095G>A];[2095G>T] | CompoundHeterozygote | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_001040716.2(PC):c.2668G>T (p.Val890Phe) | Single nucleotide variant | Chr11:66850270 | Pathogenic | Missense variant | rs1555014957 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_001040716.2(PC):c.1368+1G>A | Single nucleotide variant | Chr11:66863773 | Likely pathogenic | Splice donor variant | rs755640269 |
.GenePathDx, GenePath diagnostics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution