Variant (rsID / SNP)

rs121909298

rs121909298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 156,022,010. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SGCDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:156022010
Cytoband: 5q33.3
HGVS: NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
Allele change: Missense_S150A

Associated conditions / phenotypes

Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC

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.