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Variant (rsID / SNP)

rs147334255

MN1

rs147334255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MN1. Location: chromosome 22, position 28,146,983. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:28146983
Cytoband
22q12.1
HGVS
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
Allele change
Nonsense_R1295X

Associated conditions / phenotypes

Inborn genetic diseases|CEBALID syndrome|MN1 C-terminal truncation (MCTT) syndrome

Public references

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