Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148385798

LRBA

rs148385798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRBA. Location: chromosome 4, position 151,935,601. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LRBAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:151935601
Cytoband
4q31.3
HGVS
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)
Allele change
Missense_I65T

Associated conditions / phenotypes

Combined immunodeficiency due to LRBA deficiency

Public references

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