Microcephaly 17, primary, autosomal recessive
An Autosomal recessive mode(s) within the Neurodevelopmental disorders category
Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) | Single nucleotide variant | Chr12:119857570 | Likely pathogenic | Missense variant | rs2138306726 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar