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Variant (rsID / SNP)

rs41269549

EVC

rs41269549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,733,317. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EVCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:5733317
Cytoband
4p16.2
HGVS
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
Allele change
Missense_D184N

Associated conditions / phenotypes

Ellis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome

Public references

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