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_000045.4(ARG1):c.839del (p.Pro280fs) | Deletion | Chr6:131583776 | Pathogenic | Frameshift variant|non-coding transcript variant|intron variant | rs2114551140 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) | Single nucleotide variant | Chr6:131581341 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant|intron variant | rs754259099 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .Medical Genetics, Christian Medical College |
| NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) | Single nucleotide variant | Chr6:131579275 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant|intron variant | rs753829097 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) | Single nucleotide variant | Chr6:131573314 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs28941474 |
.Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution