Variant (rsID / SNP)

rs119490107

rs119490107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD54B. Location: chromosome 8, position 95,411,768. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAD54BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:95411768
Cytoband: 8q22.1
HGVS: NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)
Allele change: Missense_D234Y

Associated conditions / phenotypes

Carcinoma of colon

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.