Variant (rsID / SNP)

rs118204055

rs118204055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM28. Location: chromosome 7, position 127,970,949. Clinical significance in the table: Pathogenic.

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Reference-table entries

RBM28Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:127970949
Cytoband: 7q32.1
HGVS: NM_018077.3(RBM28):c.1052T>C (p.Leu351Pro)
Allele change: Missense_L351P

Associated conditions / phenotypes

ANE 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.