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Variant (rsID / SNP)

rs200139797

EARS2

rs200139797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EARS2. Location: chromosome 16, position 23,563,485. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23563485
Cytoband
16p12.2
HGVS
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
Allele change
Missense_M94V

Associated conditions / phenotypes

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Public references

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