Variant (rsID / SNP)

rs147131853

rs147131853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF6. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARHGEF6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
Allele change: Missense_C57R

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, X-linked 46

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.