Variant (rsID / SNP)

rs2070163

rs2070163 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCCS. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HCCSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_005333.5(HCCS):c.215C>T (p.Ala72Val)
Allele change: Missense_A72V

Associated conditions / phenotypes

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.