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Variant (rsID / SNP)

rs145369252

CABP2

rs145369252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CABP2. Location: chromosome 11, position 67,287,311. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CABP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67287311
Cytoband
11q13.2
HGVS
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
Allele change
Missense_I203T

Public references

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