Variant (rsID / SNP)

rs137852217

rs137852217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMER1. Location: chromosome X, position 63,412,095. Clinical significance in the table: Pathogenic.

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Reference-table entries

AMER1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: X:63412095
Cytoband: Xq11.2
HGVS: NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)
Allele change: Nonsense_R358X

Associated conditions / phenotypes

Osteopathia striata with cranial sclerosis|Inborn genetic diseases

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.