Variant (rsID / SNP)

rs2175563

rs2175563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLGN. Location: chromosome 4, position 141,320,021. The table records no clinical significance for this variant.

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Reference-table entries

CLGNNot classified

Variant type: missense_variant
Chromosome / position: 4:141320021
HGVS: NM_001130675.2,c.868G>A,p.Val290Ile
Allele change: Missense_V290I

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.