X-linked Lymphoproliferative Disease Due To SH2D1A Deficiency(Duncan disease)
An X-linked recessive mode(s) within the Immune disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SH2D1A/4068 | SH2 domain containing 1A | Xq25 | ChrX, NC_000023.11 (124346563..124373160) |
26598 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities