Dyggve-Melchior-Clausen syndrome
An Autosomal recessive mode(s) within the Multisystemic disorders category
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| GRCh37/hg19 18q21.2(chr18:49286617-49331863)x1 | Copy number loss | Chr: | Likely pathogenic |
.Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. |
||
| NM_001353214.3(DYM):c.1728+2T>C | Single nucleotide variant | Chr18:49163683 | Pathogenic/Likely pathogenic | Splice donor variant | rs2087482291 |
.Centre for Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution