Variant (rsID / SNP)

rs150478342

rs150478342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP1. Location: chromosome 2, position 135,887,597. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAB3GAP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:135887597
Cytoband: 2q21.3
HGVS: NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)
Allele change: Missense_R336C

Associated conditions / phenotypes

Warburg micro syndrome 1|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.