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Variant (rsID / SNP)

rs193302867

EFEMP2

rs193302867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFEMP2. Location: chromosome 11, position 65,638,121. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EFEMP2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:65638121
Cytoband
11q13.1
HGVS
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
Allele change
Missense_E126K

Associated conditions / phenotypes

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

Public references

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