Variant (rsID / SNP)

rs34203073

rs34203073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGGF1. Location: chromosome 5, position 76,331,449. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AGGF1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:76331449
Cytoband: 5q13.3
HGVS: NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys)
Allele change: Missense_E133K

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.