Variant (rsID / SNP)

rs145123078

rs145123078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIMS2. Location: chromosome 2, position 128,400,622. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LIMS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:128400622
Cytoband: 2q14.3
HGVS: NM_001161403.3(LIMS2):c.385C>T (p.Arg129Cys)
Allele change: Missense_R153C

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2W

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.