Variant (rsID / SNP)

rs149563712

rs149563712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,363,770. 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: 1:220363770
Cytoband: 1q41
HGVS: NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu)
Allele change: Missense_P527L

Associated conditions / phenotypes

Martsolf syndrome|Warburg micro syndrome 2|Microcephaly|Global developmental delay|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.