Variant (rsID / SNP)

rs397509418

rs397509418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC11. Location: chromosome 4, position 184,605,212. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TRAPPC11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:184605212
Cytoband: 4q35.1
HGVS: NM_021942.6(TRAPPC11):c.1287+5G>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type R18|Muscular dystrophy, limb-girdle, autosomal recessive 23

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.