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Variant (rsID / SNP)

rs869320625

EMC1

rs869320625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMC1. Location: chromosome 1, position 19,570,485. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EMC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:19570485
Cytoband
1p36.13
HGVS
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
Allele change
Silent

Associated conditions / phenotypes

Cerebellar atrophy, visual impairment, and psychomotor retardation|EMC1-Related Disorder|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.