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Variant (rsID / SNP)

rs143040005

CABP4

rs143040005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CABP4. Location: chromosome 11, position 67,223,175. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CABP4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67223175
Cytoband
11q13.2
HGVS
NM_145200.5(CABP4):c.281G>A (p.Arg94His)
Allele change
Silent

Associated conditions / phenotypes

Cone-rod synaptic disorder, congenital nonprogressive

Public references

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