Variant (rsID / SNP)

rs189033490

rs189033490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAM83H. Location: chromosome 8, position 144,811,340. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FAM83HConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:144811340
Cytoband: 8q24.3
HGVS: NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter)
Allele change: Nonsense_Q201X

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.