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Gene entry

EMC1

ER membrane protein complex subunit 1

Chromosome
1
Cytoband
1p36.13
Variants (rsID)
19

EMC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.13). Its official name is “ER membrane protein complex subunit 1”. The reference table lists 19 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs869320625Conflicting interpretationssingle nucleotide variantCerebellar atrophy, visual impairment, and psychomotor retardation|EMC1-Related Disorder|Inborn genetic diseases
  • rs869320624Likely pathogenicDeletionCerebellar atrophy, visual impairment, and psychomotor retardation|Congenital anomaly of kidney and urinary tract
  • rs869320626Uncertain significancesingle nucleotide variantCerebellar atrophy, visual impairment, and psychomotor retardation

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.