Variant (rsID / SNP)

rs121908425

rs121908425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,749,953. Clinical significance in the table: Pathogenic.

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Reference-table entries

EVCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:5749953
Cytoband: 4p16.2
HGVS: NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
Allele change: Nonsense_R340X

Associated conditions / phenotypes

Ellis-van Creveld syndrome|Short-rib thoracic dysplasia 6 with or without polydactyly|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.