Variant (rsID / SNP)

rs190917891

rs190917891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,812,392. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL12A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:75812392
Cytoband: 6q13
HGVS: NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
Allele change: Missense_R1615H

Associated conditions / phenotypes

Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2

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.