Variant (rsID / SNP)

rs672601375

rs672601375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS1. Location: chromosome 5, position 167,913,504. Clinical significance in the table: Pathogenic.

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Reference-table entries

RARS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:167913504
Cytoband: 5q34
HGVS: NM_002887.4(RARS1):c.1A>G (p.Met1Val)
Allele change: Missense_M1V

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 9

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.