Variant (rsID / SNP)

rs41272041

rs41272041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,371,397. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL2A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:48371397
Cytoband: 12q13.11
HGVS: NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
Allele change: Missense_A1051T

Associated conditions / phenotypes

Type II Collagenopathies|Stickler syndrome type 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.