Variant (rsID / SNP)

rs17424179

rs17424179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNPO3. Location: chromosome 7, position 128,657,995. Clinical significance in the table: Benign.

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Reference-table entries

TNPO3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:128657995
Cytoband: 7q32.1
HGVS: NM_012470.4(TNPO3):c.321+16C>T
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.