Variant (rsID / SNP)

rs121908171

rs121908171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB23. Location: chromosome 6, position 57,059,615. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RAB23Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:57059615
Cytoband: 6p12.1
HGVS: NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
Allele change: Nonsense_L145X

Associated conditions / phenotypes

RAB23-related Carpenter syndrome|Inborn genetic diseases|Carpenter syndrome

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.