Variant (rsID / SNP)

rs869312742

rs869312742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMG9. Location: chromosome 19, position 44,248,920. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SMG9Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:44248920
Cytoband: 19q13.31
HGVS: NM_019108.4(SMG9):c.701+4A>G
Allele change: Silent

Associated conditions / phenotypes

Brainstem dysplasia|Global developmental delay|Abnormal facial shape|Abnormality of cardiovascular system morphology|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.