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Variant (rsID / SNP)

rs10007569

TRMT10A

rs10007569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMT10A. Location: chromosome 4, position 100,478,524. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRMT10AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:100478524
Cytoband
4q23
HGVS
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)
Allele change
Missense_R133Q

Associated conditions / phenotypes

Microcephaly, short stature, and impaired glucose metabolism 1

Public references

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