Variant (rsID / SNP)

rs201352197

rs201352197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECPR2. Location: chromosome 14, position 102,904,455. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TECPR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:102904455
Cytoband: 14q32.31
HGVS: NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys)
Allele change: Missense_G831C

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.