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Variant (rsID / SNP)

rs199765304

WDR19

rs199765304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR19. Location: chromosome 4, position 39,217,779. 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
4:39217779
Cytoband
4p14
HGVS
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
Allele change
Synonymous_L240L

Associated conditions / phenotypes

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

Public references

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