Variant (rsID / SNP)

rs587777514

rs587777514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAB21L2. Location: chromosome 4, position 151,504,921. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MAB21L2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:151504921
Cytoband: 4q31.3
HGVS: NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)
Allele change: Silent

Associated conditions / phenotypes

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

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.