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Variant (rsID / SNP)

rs200133722

WDR19

rs200133722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR19. Location: chromosome 4, position 39,236,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WDR19Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:39236493
Cytoband
4p14
HGVS
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
Allele change
Synonymous_F627F

Associated conditions / phenotypes

Cranioectodermal dysplasia 4|Asphyxiating thoracic dystrophy 5|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Connective tissue disorder

Public references

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