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Variant (rsID / SNP)

rs369804770

ELN

rs369804770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,480,318. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:73480318
Cytoband
7q11.23
HGVS
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
Allele change
Missense_P693S

Associated conditions / phenotypes

Cutis laxa, autosomal dominant 1|Supravalvar aortic stenosis

Public references

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