Autosomal recessive multiple pterygium syndrome
An Autosomal recessive mode(s) within the Multisystemic disorders category
Conflicting classifications of pathogenicity
1
Pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_005199.5(CHRNG):c.55+5G>A | Single nucleotide variant | Chr2:232539807 | Pathogenic | Intron variant | rs2469745168 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_005199.5(CHRNG):c.56-2A>G | Single nucleotide variant | Chr2:232539990 | Pathogenic | Splice acceptor variant | rs2469745410 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) | Single nucleotide variant | Chr2:232543658 | Conflicting classifications of pathogenicity | Missense variant | rs567899708 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar