Variant (rsID / SNP)

rs188522997

rs188522997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,366,594. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RAB3GAP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:220366594
Cytoband: 1q41
HGVS: NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys)
Allele change: Missense_R420C

Associated conditions / phenotypes

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

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.