Variant (rsID / SNP)

rs34840340

rs34840340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBCK. Location: chromosome 4, position 107,163,667. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBCKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:107163667
Cytoband: 4q24
HGVS: NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)
Allele change: Missense_D205V

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.