Variant (rsID / SNP)

rs121909574

rs121909574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFAP2A. Location: chromosome 6, position 10,404,742. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TFAP2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:10404742
Cytoband: 6p24.3
HGVS: NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
Allele change: Missense_R255G

Associated conditions / phenotypes

Branchiooculofacial 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.