Variant (rsID / SNP)

rs201613456

rs201613456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,356,264. 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: 1:220356264
Cytoband: 1q41
HGVS: NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)
Allele change: Missense_L670V

Associated conditions / phenotypes

Warburg micro syndrome 2|Martsolf syndrome|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.