Variant (rsID / SNP)

rs121917810

rs121917810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGTR2. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AGTR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
Allele change: Missense_G21V

Associated conditions / phenotypes

Intellectual disability, X-linked 88|History of neurodevelopmental disorder

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.