Variant (rsID / SNP)

rs116775947

rs116775947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP1. Location: chromosome 2, position 135,884,166. Clinical significance in the table: Benign.

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Reference-table entries

RAB3GAP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:135884166
Cytoband: 2q21.3
HGVS: NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)
Allele change: Missense_I305V

Associated conditions / phenotypes

Warburg micro syndrome 1

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.