Variant (rsID / SNP)

rs122455132

rs122455132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC16A2. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC16A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.2
HGVS: NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
Allele change: Missense_L397P

Associated conditions / phenotypes

Allan-Herndon-Dudley syndrome|Intellectual disability

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.