Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143570936

SGCA

rs143570936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,246,607. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SGCAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:48246607
Cytoband
17q21.33
HGVS
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy|See cases|Autosomal recessive limb-girdle muscular dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.