Variant (rsID / SNP)

rs200769126

rs200769126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDP1. Location: chromosome 14, position 90,485,661. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TDP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:90485661
Cytoband: 14q32.11
HGVS: NM_018319.4(TDP1):c.1543G>A (p.Ala515Thr)
Allele change: Missense_A515T

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.