Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201651890

EVC2

rs201651890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,564,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

EVC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:5564665
Cytoband
4p16.2
HGVS
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)
Allele change
Synonymous_K1279K

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.