Variant (rsID / SNP)

rs121909296

rs121909296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,771,584. Clinical significance in the table: Pathogenic.

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Reference-table entries

SGCDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:155771584
Cytoband: 5q33.3
HGVS: NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)
Allele change: Nonsense_W29X

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2F

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.