Variant (rsID / SNP)

rs149101001

rs149101001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIMS2. Location: chromosome 2, position 128,397,000. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LIMS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:128397000
Cytoband: 2q14.3
HGVS: NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)
Allele change: Missense_N318K

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.