Variant (rsID / SNP)

rs144263040

rs144263040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,384,188. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RAB3GAP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:220384188
Cytoband: 1q41
HGVS: NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=)
Allele change: Synonymous_C155C

Associated conditions / phenotypes

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.