Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs398122368

SMARCB1

rs398122368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCB1. Location: chromosome 22, position 24,133,959. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SMARCB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:24133959
Cytoband
22q11.23
HGVS
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
Allele change
Missense_R37H

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 15|SMARCB1-related BAFopathy

Public references

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