Variant (rsID / SNP)

rs587780389

rs587780389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAGI2. Location: chromosome 7, position 78,130,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAGI2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:78130981
Cytoband: 7q21.11
HGVS: NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)
Allele change: Missense_T293I

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.