Variant (rsID / SNP)

rs869320624

rs869320624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMC1. Location: chromosome 1, position 19,547,308. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

EMC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 1:19547308
Cytoband: 1p36.13
HGVS: NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs)

Associated conditions / phenotypes

Cerebellar atrophy, visual impairment, and psychomotor retardation|Congenital anomaly of kidney and urinary tract

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.