Variant (rsID / SNP)

rs137876115

rs137876115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABRAXAS1. Location: chromosome 4, position 84,391,468. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABRAXAS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:84391468
Cytoband: 4q21.23
HGVS: NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
Allele change: Nonsense_Q13X

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.