Variant (rsID / SNP)

rs869320626

rs869320626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMC1. Location: chromosome 1, position 19,547,328. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EMC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:19547328
Cytoband: 1p36.13
HGVS: NM_015047.3(EMC1):c.2602G>A (p.Gly868Arg)
Allele change: Silent

Associated conditions / phenotypes

Cerebellar atrophy, visual impairment, and psychomotor retardation

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.