Variant (rsID / SNP)

rs7762875

rs7762875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS1. Location: chromosome 6, position 39,881,102. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MOCS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:39881102
Cytoband: 6p21.2
HGVS: NM_001358530.2(MOCS1):c.716T>A (p.Leu239His)
Allele change: Missense_L239H

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.