Variant (rsID / SNP)

rs138948924

rs138948924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMER1. Location: chromosome X, position 63,412,291. Clinical significance in the table: Benign.

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Reference-table entries

AMER1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: X:63412291
Cytoband: Xq11.2
HGVS: NM_152424.4(AMER1):c.876G>C (p.Lys292Asn)
Allele change: Missense_K292N

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.