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Variant (rsID / SNP)

rs267606821

FLVCR1

rs267606821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLVCR1. Location: chromosome 1, position 213,032,368. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FLVCR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:213032368
Cytoband
1q32.3
HGVS
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
Allele change
Missense_C192R

Associated conditions / phenotypes

Posterior column ataxia-retinitis pigmentosa syndrome

Public references

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