Variant (rsID / SNP)

rs4241779

rs4241779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC11. Location: chromosome 4, position 184,600,601. Clinical significance in the table: Benign.

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Reference-table entries

TRAPPC11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:184600601
Cytoband: 4q35.1
HGVS: NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=)
Allele change: Synonymous_A309A

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.