Variant (rsID / SNP)

rs13216733

rs13216733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFAP2B. Location: chromosome 6, position 50,791,482. The table records no clinical significance for this variant.

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Reference-table entries

TFAP2BNot classified

Variant type: single nucleotide variant
Chromosome / position: 6:50791482
Cytoband: 6p12.3
HGVS: NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)
Allele change: Missense_D148E

Associated conditions / phenotypes

Char 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.