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Variant (rsID / SNP)

rs749176054

TCF4

rs749176054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCF4. Location: chromosome 18, position 52,899,907. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TCF4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:52899907
Cytoband
18q21.2
HGVS
NM_001083962.2(TCF4):c.1487-5G>A
Allele change
Silent

Associated conditions / phenotypes

Intellectual disability|Pitt-Hopkins syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.