Variant (rsID / SNP)

rs200549195

rs200549195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KBTBD13, RASL12. Location: chromosome 15, position 65,369,895. Clinical significance in the table: Pathogenic.

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Reference-table entries

KBTBD13Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:65369895
Cytoband: 15q22.31
HGVS: NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
Allele change: Missense_R248S

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.