Variant (rsID / SNP)

rs104893969

rs104893969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS1. Location: chromosome 6, position 39,880,033. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MOCS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:39880033
Cytoband: 6p21.2
HGVS: NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)
Allele change: Missense_R319Q

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

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.