Variant (rsID / SNP)

rs12904843

rs12904843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KBTBD13. Location: chromosome 15, position 65,371,050. Clinical significance in the table: Benign.

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Reference-table entries

KBTBD13Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:65371050
Cytoband: 15q22.31
HGVS: NM_001101362.3(KBTBD13):c.*520A>G
Allele change: Silent

Associated conditions / phenotypes

Nemaline myopathy 6

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.