Variant (rsID / SNP)

rs119489101

rs119489101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFEMP2. Location: chromosome 11, position 65,638,826. Clinical significance in the table: Pathogenic.

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Reference-table entries

EFEMP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:65638826
Cytoband: 11q13.1
HGVS: NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)
Allele change: Missense_E57K

Associated conditions / phenotypes

Cutis laxa, autosomal recessive, type 1B|Cutis laxa, autosomal recessive, type 1A

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.