Variant (rsID / SNP)

rs121909122

rs121909122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCF4. Location: chromosome 18, position 52,921,925. Clinical significance in the table: Pathogenic.

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Reference-table entries

TCF4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:52921925
Cytoband: 18q21.2
HGVS: NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
Allele change: Nonsense_R391X

Associated conditions / phenotypes

Pitt-Hopkins syndrome|Corneal dystrophy, Fuchs endothelial, 3|Pitt-Hopkins syndrome

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.