Variant (rsID / SNP)

rs2230419

rs2230419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LBR. Location: chromosome 1, position 225,607,144. Clinical significance in the table: Benign.

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Reference-table entries

LBRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:225607144
Cytoband: 1q42.12
HGVS: NM_002296.4(LBR):c.461G>A (p.Ser154Asn)
Allele change: Missense_S154N

Associated conditions / phenotypes

Greenberg dysplasia|Reynolds syndrome|Pelger-HuÃ«t anomaly

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.