Variant (rsID / SNP)

rs192787819

rs192787819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,000,554. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TECTAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:121000554
Cytoband: 11q23.3
HGVS: NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys)
Allele change: Missense_E859K

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.