Variant (rsID / SNP)

rs398123649

rs398123649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,545,970. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:47545970
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
Allele change: Synonymous_L747L

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.