Variant (rsID / SNP)

rs121909121

rs121909121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCF4. Location: chromosome 18, position 52,896,218. 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: 18:52896218
Cytoband: 18q21.2
HGVS: NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
Allele change: Missense_R586Q

Associated conditions / phenotypes

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.