Variant (rsID / SNP)

rs267606820

rs267606820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLVCR1. Location: chromosome 1, position 213,032,155. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLVCR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:213032155
Cytoband: 1q32.3
HGVS: NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)
Allele change: Missense_N121D

Associated conditions / phenotypes

Posterior column ataxia-retinitis pigmentosa syndrome

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.