Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
2
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001673.5(ASNS):c.413A>C (p.Asp138Ala) | Single nucleotide variant | Chr7:97864333 | Likely pathogenic | Non-coding transcript variant|missense variant | rs797045306 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001673.5(ASNS):c.1211G>A (p.Arg404His) | Single nucleotide variant | Chr7:97854607 | Likely pathogenic | Non-coding transcript variant|missense variant | rs774808316 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001673.5(ASNS):c.1649G>A (p.Arg550His) | Single nucleotide variant | Chr7:97852296 | Pathogenic/Likely pathogenic | Non-coding transcript variant|missense variant | rs552452349 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001673.5(ASNS):c.224A>G (p.Asn75Ser) | Single nucleotide variant | Chr7:97868933 | Pathogenic/Likely pathogenic | Non-coding transcript variant|missense variant|intron variant | rs747624770 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution