Variant (rsID / SNP)

rs6649207

rs6649207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH2D1A. Clinical significance in the table: Benign.

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Reference-table entries

SH2D1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq25
HGVS: NM_002351.5(SH2D1A):c.*1321A>G
Allele change: Silent

Associated conditions / phenotypes

X-linked lymphoproliferative disease due to SH2D1A deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.