Variant (rsID / SNP)

rs180747811

rs180747811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC2. Location: chromosome 4, position 5,617,239. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EVC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:5617239
Cytoband: 4p16.2
HGVS: NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
Allele change: Missense_K913N

Associated conditions / phenotypes

Jeune thoracic dystrophy

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.