Variant (rsID / SNP)

rs113002470

rs113002470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,733,336. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EVCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:5733336
Cytoband: 4p16.2
HGVS: NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
Allele change: Missense_R190L

Associated conditions / phenotypes

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.