Variant (rsID / SNP)

rs772575104

rs772575104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS2. Location: chromosome 5, position 52,403,003. Clinical significance in the table: Pathogenic.

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Reference-table entries

MOCS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:52403003
Cytoband: 5q11.2
HGVS: NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)
Allele change: Synonymous_Y63Y

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

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.