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Variant (rsID / SNP)

rs200360214

TUBGCP6

rs200360214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBGCP6. Location: chromosome 22, position 50,682,644. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUBGCP6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:50682644
Cytoband
22q13.33
HGVS
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg)
Allele change
Missense_L82R

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.