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Variant (rsID / SNP)

rs878853271

TELO2

rs878853271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TELO2. Location: chromosome 16, position 1,556,985. 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
16:1556985
Cytoband
16p13.3
HGVS
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
Allele change
Missense_D720V

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.