Total 3 pathogenic variants reported for Bosley-Salih-Alorainy syndrome
Single Nucleotide Variant (1)
Duplication (1)
Deletion (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter)
SNV
Germline
Chr7:27095829
Pathogenic
Bosley-Salih-Alorainy syndrome
No Assertion Criteria Provided
CA124437
rs_104894017
1 Submitters
RCV000016028