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Variant (rsID / SNP)

rs80299691

LBR

rs80299691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LBR. Location: chromosome 1, position 225,592,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LBRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:225592184
Cytoband
1q42.12
HGVS
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
Allele change
Missense_S537A

Associated conditions / phenotypes

Greenberg dysplasia|Connective tissue disorder

Public references

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