Variant (rsID / SNP)

rs138139146

rs138139146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIOBP. Location: chromosome 22, position 38,165,269. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRIOBPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:38165269
Cytoband: 22q13.1
HGVS: NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
Allele change: Missense_E2246K

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.