Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141287105

EVC2

rs141287105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,642,347. 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
4:5642347
Cytoband
4p16.2
HGVS
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
Allele change
Missense_T455R

Associated conditions / phenotypes

Ellis-van Creveld syndrome|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.