Variant (rsID / SNP)

rs147040794

rs147040794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMER1. Location: chromosome X, position 63,412,982. Clinical significance in the table: Likely benign.

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Reference-table entries

AMER1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: X:63412982
Cytoband: Xq11.2
HGVS: NM_152424.4(AMER1):c.185G>T (p.Gly62Val)
Allele change: Missense_G62V

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.