Variant (rsID / SNP)

rs28936383

rs28936383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,895,065. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SGCBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:52895065
Cytoband: 4q12
HGVS: NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
Allele change: Missense_T151R

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.