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Variant (rsID / SNP)

rs144972972

RMND1

rs144972972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RMND1. Location: chromosome 6, position 151,751,289. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RMND1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:151751289
Cytoband
6q25.1
HGVS
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
Allele change
Missense_N238S

Associated conditions / phenotypes

Mitochondrial disease|Combined oxidative phosphorylation defect type 11|Mitochondrial oxidative phosphorylation disorder|Nephronophthisis

Public references

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