Variant (rsID / SNP)

rs398122828

rs398122828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A1. Location: chromosome 1, position 103,381,186. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL11A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:103381186
Cytoband: 1p21.1
HGVS: NM_001854.4(COL11A1):c.3816+1G>A
Allele change: Silent

Associated conditions / phenotypes

Marshall syndrome|Inborn genetic diseases

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.