Variant (rsID / SNP)

rs144641429

rs144641429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCCS. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HCCSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
Allele change: Missense_G2D

Associated conditions / phenotypes

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.