Variant (rsID / SNP)

rs116514447

rs116514447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,620,310. 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: 4:5620310
Cytoband: 4p16.2
HGVS: NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
Allele change: Synonymous_A867A

Associated conditions / phenotypes

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