Variant (rsID / SNP)

rs139315125

rs139315125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PER3. Location: chromosome 1, position 7,869,960. Clinical significance in the table: Pathogenic.

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Reference-table entries

PER3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:7869960
Cytoband: 1p36.23
HGVS: NM_001377275.1(PER3):c.1250A>G (p.His417Arg)
Allele change: Missense_H417R

Associated conditions / phenotypes

Advanced sleep phase syndrome 3

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.