Variant (rsID / SNP)

rs144743676

rs144743676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,899,689. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SGCBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:52899689
Cytoband: 4q12
HGVS: NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
Allele change: Missense_R51C

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.