Variant (rsID / SNP)

rs2076026

rs2076026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBPJL. Location: chromosome 20, position 43,942,676. Clinical significance in the table: Benign.

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Reference-table entries

RBPJLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:43942676
Cytoband: 20q13.12
HGVS: NM_014276.4(RBPJL):c.759T>C (p.Ala253=)
Allele change: Synonymous_A253A

Associated conditions / phenotypes

Type 2 diabetes mellitus

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.