Diabetes mellitus, permanent neonatal 4
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
1
Likely pathogenic/Likely risk allele
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000207.3(INS):c.283T>C (p.Cys95Arg) | Single nucleotide variant | Chr11:2159902 | Likely pathogenic | Missense variant|intron variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000207.3(INS):c.94G>A (p.Gly32Ser) | Single nucleotide variant | Chr11:2160878 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs80356664 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.143T>G (p.Phe48Cys) | Single nucleotide variant | Chr11:2160829 | Likely pathogenic/Likely risk allele | Missense variant|non-coding transcript variant | rs80356668 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) | Single nucleotide variant | Chr11:2159898 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs80356671 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution