Variant (rsID / SNP)

rs145746084

rs145746084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE27. Location: chromosome 10, position 99,504,641. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZFYVE27Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:99504641
Cytoband: 10q24.2
HGVS: NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)
Allele change: Missense_R44C

Associated conditions / phenotypes

Hereditary spastic paraplegia 33|Spastic paraplegia

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.