Variant (rsID / SNP)

rs200314808

rs200314808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,054,710. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATL1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:51054710
Cytoband: 14q22.1
HGVS: NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)
Allele change: Missense_E66Q

Associated conditions / phenotypes

Neuropathy, hereditary sensory, type 1D|Hereditary spastic paraplegia 3A

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.