Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs190935424

SGCD

rs190935424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 156,021,961. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SGCDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:156021961
Cytoband
5q33.3
HGVS
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
Allele change
Synonymous_A133A

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2F

Public references

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