Variant (rsID / SNP)

rs35765118

rs35765118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIMS2. Location: chromosome 2, position 128,412,453. Clinical significance in the table: Benign.

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Reference-table entries

LIMS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:128412453
Cytoband: 2q14.3
HGVS: NM_001161403.3(LIMS2):c.189C>T (p.Tyr63=)
Allele change: Synonymous_Y87Y

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.