Variant (rsID / SNP)

rs376780156

rs376780156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,771,686. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SGCDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:155771686
Cytoband: 5q33.3
HGVS: NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
Allele change: Missense_I63T

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.