Variant (rsID / SNP)

rs114764023

rs114764023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,620,290. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EVC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:5620290
Cytoband: 4p16.2
HGVS: NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
Allele change: Missense_R874Q

Associated conditions / phenotypes

Curry-Hall syndrome|Ellis-van Creveld 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.