SH2D1A - Gene browser | 3billion

SH2D1A

SH2D1A

SH2 domain containing 1A

HCNC Approved Symbol: SH2D1A (HGNC:10820)
Genomic Coordinates: 23:124,346,563 - 124,373,160 (Xq25)
Synonyms: XLP, MTCP1, DSHP, XLPD, EBVS, SAP, IMD5, LYP
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SH2D1A gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Burkitt lymphoma: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Panhypogammaglobulinemia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

SH2D1A - Gene browser | 3billion