Variant (rsID / SNP)

rs148630223

rs148630223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,412,294. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL6A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:47412294
Cytoband: 21q22.3
HGVS: NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)
Allele change: Synonymous_D418D

Associated conditions / phenotypes

Collagen 6-related myopathy|Bethlem myopathy 1

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.