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Variant (rsID / SNP)

rs202020308

TELO2

rs202020308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TELO2. Location: chromosome 16, position 1,550,445. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TELO2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:1550445
Cytoband
16p13.3
HGVS
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
Allele change
Missense_C367F

Associated conditions / phenotypes

TELO2-related intellectual disability-neurodevelopmental disorder

Public references

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