Variant (rsID / SNP)

rs751970061

rs751970061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECPR2. Location: chromosome 14, position 102,918,740. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TECPR2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 14:102918740
Cytoband: 14q32.31
HGVS: NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)

Associated conditions / phenotypes

Hereditary spastic paraplegia 49

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.