Variant (rsID / SNP)

rs767713084

rs767713084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP2. Location: chromosome 18, position 33,736,537. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:33736537
Cytoband: 18q12.2
HGVS: NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
Allele change: Missense_R412W

Associated conditions / phenotypes

Inborn genetic diseases|Intellectual disability, autosomal recessive 58

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.