Variant (rsID / SNP)

rs59190330

rs59190330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,324,715. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAB3GAP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:220324715
Cytoband: 1q41
HGVS: NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
Allele change: Missense_I1354V

Associated conditions / phenotypes

Martsolf syndrome|Warburg micro syndrome 2|Martsolf syndrome|Warburg micro syndrome 2

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.