Variant (rsID / SNP)

rs201842633

rs201842633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EARS2. Location: chromosome 16, position 23,555,992. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EARS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23555992
Cytoband: 16p12.2
HGVS: NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
Allele change: Missense_G110S

Associated conditions / phenotypes

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|Inborn genetic diseases

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.