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Variant (rsID / SNP)

rs398124137

COL6A3

rs398124137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,234,400. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:238234400
Cytoband
2q37.3
HGVS
NM_004369.4(COL6A3):c.9329-33C>T
Allele change
Silent

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.