Variant (rsID / SNP)

rs10432965

rs10432965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2, FTCD. Location: chromosome 21, position 47,557,222. Clinical significance in the table: Benign.

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Reference-table entries

COL6A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:47557222
Cytoband: 21q22.3
HGVS: NM_206965.2(FTCD):c.1470C>T (p.Gly490=)
Allele change: Synonymous_G490G

Associated conditions / phenotypes

Glutamate formiminotransferase deficiency|Collagen 6-related myopathy|Myosclerosis

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.