Variant (rsID / SNP)

rs267606825

rs267606825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLVCR2. Location: chromosome 14, position 76,107,351. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLVCR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:76107351
Cytoband: 14q24.3
HGVS: NM_017791.3(FLVCR2):c.1289C>G (p.Thr430Arg)
Allele change: Missense_T430R

Associated conditions / phenotypes

Fowler 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.