Variant (rsID / SNP)

rs104893868

rs104893868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,894,965. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SGCBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:52894965
Cytoband: 4q12
HGVS: NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
Allele change: Nonsense_Y184X

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2E

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.