Variant (rsID / SNP)

rs148833310

rs148833310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC11. Location: chromosome 4, position 184,600,605. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRAPPC11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:184600605
Cytoband: 4q35.1
HGVS: NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)
Allele change: Missense_L311V

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type R18

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.