Variant (rsID / SNP)

rs143257000

rs143257000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CABP4. Location: chromosome 11, position 67,223,827. Clinical significance in the table: Likely benign.

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Reference-table entries

CABP4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:67223827
Cytoband: 11q13.2
HGVS: NM_145200.5(CABP4):c.455G>A (p.Arg152Gln)
Allele change: Missense_R47Q

Associated conditions / phenotypes

Cone-rod synaptic disorder, congenital nonprogressive

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.