Variant (rsID / SNP)

rs62000389

rs62000389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECPR2. Location: chromosome 14, position 102,912,150. Clinical significance in the table: Benign.

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Reference-table entries

TECPR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:102912150
Cytoband: 14q32.31
HGVS: NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)
Allele change: Missense_Q981K

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.