Variant (rsID / SNP)

rs3753841

rs3753841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A1. Location: chromosome 1, position 103,379,918. Clinical significance in the table: Benign.

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Reference-table entries

COL11A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:103379918
Cytoband: 1p21.1
HGVS: NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
Allele change: Silent

Associated conditions / phenotypes

Stickler syndrome type 2|Fibrochondrogenesis 1|Hearing loss, autosomal dominant 37|Marshall syndrome

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.