Variant (rsID / SNP)

rs376103091

rs376103091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EARS2. Location: chromosome 16, position 23,555,998. 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: 16:23555998
Cytoband: 16p12.2
HGVS: NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
Allele change: Missense_R108W

Associated conditions / phenotypes

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|Inborn genetic diseases|9 conditions

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.