Variant (rsID / SNP)

rs75829835

rs75829835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,586,367. Clinical significance in the table: Benign.

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Reference-table entries

EVC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:5586367
Cytoband: 4p16.2
HGVS: NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
Allele change: Missense_L1014V

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.