Variant (rsID / SNP)

rs6151415

rs6151415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,361. Clinical significance in the table: Benign.

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Reference-table entries

ARSABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:51065361
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
Allele change: Missense_W109C

Associated conditions / phenotypes

Metachromatic leukodystrophy|Citrullinemia

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.