Variant (rsID / SNP)

rs371675217

rs371675217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,244,792. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SGCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:48244792
Cytoband: 17q21.33
HGVS: NM_000023.4(SGCA):c.101G>A (p.Arg34His)
Allele change: Missense_R34H

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D

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.