Variant (rsID / SNP)

rs137852928

rs137852928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,586,559. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EVC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:5586559
Cytoband: 4p16.2
HGVS: NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
Allele change: Missense_R950W

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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