Variant (rsID / SNP)

rs34978247

rs34978247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREH. Location: chromosome 11, position 118,533,594. Clinical significance in the table: Likely benign.

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Reference-table entries

TREHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:118533594
Cytoband: 11q23.3
HGVS: NM_007180.3(TREH):c.419A>G (p.Lys140Arg)
Allele change: Missense_K140R

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.