Variant (rsID / SNP)

rs575822089

rs575822089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBCK. Location: chromosome 4, position 107,183,260. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TBCKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:107183260
Cytoband: 4q24
HGVS: NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
Allele change: Silent

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|Inborn genetic diseases|Syndromic Infantile Encephalopathy

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.