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Variant (rsID / SNP)

rs146588335

EVC2

rs146588335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,624,521. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EVC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:5624521
Cytoband
4p16.2
HGVS
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
Allele change
Synonymous_T748T

Associated conditions / phenotypes

Curry-Hall syndrome|Ellis-van Creveld syndrome

Public references

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