Variant (rsID / SNP)

rs869312741

rs869312741 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMG9. Location: chromosome 19, position 44,251,661. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMG9Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 19:44251661
Cytoband: 19q13.31
HGVS: NM_019108.4(SMG9):c.520_521del (p.Pro174fs)

Associated conditions / phenotypes

Abnormal facial shape|Abnormality of cardiovascular system morphology|Global developmental delay|Brainstem dysplasia|Heart and brain malformation 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.