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Variant (rsID / SNP)

rs121912952

COL11A2

rs121912952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,145,920. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL11A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:33145920
Cytoband
6p21.32
HGVS
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
Allele change
Missense_P535T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 53|Hearing impairment

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.