Variant (rsID / SNP)

rs376633424

rs376633424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR62. Location: chromosome 19, position 36,593,722. Clinical significance in the table: Pathogenic.

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Reference-table entries

WDR62Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:36593722
Cytoband: 19q13.12
HGVS: NM_001083961.2(WDR62):c.3304C>T (p.Gln1102Ter)
Allele change: Nonsense_Q1102X

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.