Variant (rsID / SNP)

rs41511151

rs41511151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELN. Location: chromosome 7, position 73,482,987. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ELNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:73482987
Cytoband: 7q11.23
HGVS: NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
Allele change: Missense_G711D

Associated conditions / phenotypes

Cutis laxa, autosomal dominant|Supravalvar aortic stenosis

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.