Variant (rsID / SNP)

rs148885407

rs148885407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNPO3. Location: chromosome 7, position 128,645,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNPO3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:128645184
Cytoband: 7q32.1
HGVS: NM_012470.4(TNPO3):c.582T>C (p.Asp194=)
Allele change: Silent

Associated conditions / phenotypes

Autosomal dominant limb-girdle muscular dystrophy type 1F

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.