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Variant (rsID / SNP)

rs794726665

EVC

rs794726665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,795,449. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EVCPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:5795449
Cytoband
4p16.2
HGVS
NM_153717.3(EVC):c.1886+5G>T
Allele change
Silent

Associated conditions / phenotypes

Ellis-van Creveld syndrome|Short-rib thoracic dysplasia 6 with or without polydactyly|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.