Variant (rsID / SNP)

rs193042691

rs193042691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLVCR2. Location: chromosome 14, position 76,045,736. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FLVCR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:76045736
Cytoband: 14q24.3
HGVS: NM_017791.3(FLVCR2):c.421G>A (p.Val141Met)
Allele change: Silent

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.