Variant (rsID / SNP)

rs79804817

rs79804817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC11. Location: chromosome 4, position 184,626,187. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRAPPC11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:184626187
Cytoband: 4q35.1
HGVS: NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met)
Allele change: Missense_V1007M

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.