Variant (rsID / SNP)

rs36117715

rs36117715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,262,021. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL6A3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:238262021
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
Allele change: Missense_P1611L

Associated conditions / phenotypes

Collagen 6-related myopathy|Bethlem myopathy 1|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 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.