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Variant (rsID / SNP)

rs140243105

MOCS1

rs140243105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS1. Location: chromosome 6, position 39,880,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MOCS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:39880653
Cytoband
6p21.2
HGVS
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
Allele change
Missense_E285K

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A|Intellectual disability

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.