Variant (rsID / SNP)

rs11559048

rs11559048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIGMAR1. Location: chromosome 9, position 34,635,679. Clinical significance in the table: Benign.

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Reference-table entries

SIGMAR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:34635679
Cytoband: 9p13.3
HGVS: NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
Allele change: Silent

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 16|Autosomal recessive distal spinal muscular atrophy 2

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.