Variant (rsID / SNP)

rs200960657

rs200960657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A6. Location: chromosome 3, position 130,300,740. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL6A6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:130300740
Cytoband: 3q22.1
HGVS: NM_001102608.3(COL6A6):c.3883C>T (p.Arg1295Ter)
Allele change: Nonsense_R1295X

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.