Variant (rsID / SNP)

rs148909575

rs148909575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCF4. Location: chromosome 18, position 52,921,833. 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: 18:52921833
Cytoband: 18q21.2
HGVS: NM_001083962.2(TCF4):c.1245T>C (p.His415=)
Allele change: Synonymous_H421H

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.