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Variant (rsID / SNP)

rs200180113

LBR

rs200180113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LBR. Location: chromosome 1, position 225,599,113. 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
1:225599113
Cytoband
1q42.12
HGVS
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)
Allele change
Missense_R372C

Associated conditions / phenotypes

Reynolds syndrome|Greenberg dysplasia

Public references

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