An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) | Single nucleotide variant | Chr13:100368510 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs2152811823 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) | Single nucleotide variant | Chr13:100309905 | Pathogenic/Likely pathogenic | Nonsense|non-coding transcript variant | rs768703749 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) | Single nucleotide variant | Chr3:136262016 | Pathogenic | Missense variant | rs1304714042 |
.Lifecell International Pvt. Ltd |
| NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) | Single nucleotide variant | Chr3:136327184 | Pathogenic/Likely pathogenic | Missense variant | rs121964959 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution