Variant (rsID / SNP)

rs143695871

rs143695871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,421,967. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL6A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47421967
Cytoband: 21q22.3
HGVS: NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
Allele change: Synonymous_N683N

Associated conditions / phenotypes

Bethlem myopathy 1

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.