Variant (rsID / SNP)

rs181514768

rs181514768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFEMP2. Location: chromosome 11, position 65,638,140. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EFEMP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:65638140
Cytoband: 11q13.1
HGVS: NM_016938.5(EFEMP2):c.368-11G>A
Allele change: Silent

Associated conditions / phenotypes

Cutis laxa, autosomal recessive, type 1B

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.