Variant (rsID / SNP)

rs4988340

rs4988340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,940,633. Clinical significance in the table: Benign.

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Reference-table entries

BRIP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:59940633
Cytoband: 17q23.2
HGVS: NM_032043.3(BRIP1):c.-31+12G>A
Allele change: Silent

Associated conditions / phenotypes

Fanconi anemia complementation group J

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.