Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs397517923

SGCD

rs397517923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,771,564. 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
5:155771564
Cytoband
5q33.3
HGVS
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
Allele change
Synonymous_Y22Y

Associated conditions / phenotypes

Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F|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.