Variant (rsID / SNP)

rs5974620

rs5974620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF6. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARHGEF6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His)
Allele change: Missense_Q297H

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.