Variant (rsID / SNP)

rs140540222

rs140540222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HARS2. Location: chromosome 5, position 140,075,141. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HARS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:140075141
Cytoband: 5q31.3
HGVS: NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
Allele change: Missense_R150C

Associated conditions / phenotypes

Perrault syndrome 2

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.