Variant (rsID / SNP)

rs587777513

rs587777513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAB21L2. Location: chromosome 4, position 151,504,326. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MAB21L2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:151504326
Cytoband: 4q31.3
HGVS: NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)
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.