Congenital contractural arachnodactyly
An Autosomal dominant mode(s) within the Bone disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
2
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) | Single nucleotide variant | Chr15:48444574 | Likely pathogenic | Missense variant | rs1057519320 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr) | Single nucleotide variant | Chr5:128338980 | Likely pathogenic | Missense variant | rs137852828 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) | Single nucleotide variant | Chr5:128338939 | Pathogenic/Likely pathogenic | Missense variant | rs1750917259 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) | Single nucleotide variant | Chr5:128349391 | Conflicting classifications of pathogenicity | Missense variant | rs1057519321 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution