Variant (rsID / SNP)

rs138339125

rs138339125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GIPC3. Location: chromosome 19, position 3,590,105. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GIPC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:3590105
Cytoband: 19p13.3
HGVS: NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
Allele change: Missense_V286I

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.