Variant (rsID / SNP)

rs869025319

rs869025319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC80. Location: chromosome 2, position 210,832,310. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

UNC80Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:210832310
Cytoband: 2q34
HGVS: NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter)
Allele change: Nonsense_L2586X

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

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.