Variant (rsID / SNP)

rs142990800

rs142990800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,188,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WHRNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:117188609
Cytoband: 9q32
HGVS: NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
Allele change: Missense_R350W

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.