Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138399473

AMER1

rs138399473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMER1. Location: chromosome X, position 63,413,082. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

AMER1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
X:63413082
Cytoband
Xq11.2
HGVS
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)
Allele change
Missense_A29T

Associated conditions / phenotypes

Osteopathia striata with cranial sclerosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.