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Variant (rsID / SNP)

rs773432002

ELP2

rs773432002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP2. Location: chromosome 18, position 33,722,272. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ELP2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:33722272
Cytoband
18q12.2
HGVS
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
Allele change
Missense_H206R

Associated conditions / phenotypes

Inborn genetic diseases|Intellectual disability, autosomal recessive 58|ELP2-Related Disorders

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.