Variant (rsID / SNP)

rs74014932

rs74014932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EARS2. Location: chromosome 16, position 23,540,858. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EARS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:23540858
Cytoband: 16p12.2
HGVS: NM_001083614.2(EARS2):c.1317G>A (p.Ser439=)
Allele change: Synonymous_S439S

Associated conditions / phenotypes

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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.