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Variant (rsID / SNP)

rs869025316

UNC80

rs869025316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC80. Location: chromosome 2, position 210,783,340. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UNC80Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:210783340
Cytoband
2q34
HGVS
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser)
Allele change
Missense_P1700S

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Public references

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