Variant (rsID / SNP)

rs117054456

rs117054456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAGI2. Location: chromosome 7, position 77,649,085. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MAGI2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:77649085
Cytoband: 7q21.11
HGVS: NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)
Allele change: Synonymous_Q1291Q

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.