Variant (rsID / SNP)

rs72700618

rs72700618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECPR2. Location: chromosome 14, position 102,916,165. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TECPR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:102916165
Cytoband: 14q32.31
HGVS: NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)
Allele change: Missense_S1092L

Associated conditions / phenotypes

Hereditary spastic paraplegia 49|Hereditary 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.