Variant (rsID / SNP)

rs376699648

rs376699648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBCK. Location: chromosome 4, position 107,156,512. Clinical significance in the table: Pathogenic.

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Reference-table entries

TBCKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:107156512
Cytoband: 4q24
HGVS: NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
Allele change: Nonsense_K283X

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|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.