Variant (rsID / SNP)

rs2276118

rs2276118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CABP2. Location: chromosome 11, position 67,288,594. Clinical significance in the table: Benign.

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Reference-table entries

CABP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:67288594
Cytoband: 11q13.2
HGVS: NM_016366.3(CABP2):c.281G>A (p.Arg94Gln)
Allele change: Missense_R100Q

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 93

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.