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Variant (rsID / SNP)

rs140872639

COL6A6

rs140872639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A6. Location: chromosome 3, position 130,311,412. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:130311412
Cytoband
3q22.1
HGVS
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter)
Allele change
Nonsense_G1434X

Public references

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