Variant (rsID / SNP)

rs138830549

rs138830549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,230,053. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LRSAM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:130230053
Cytoband: 9q33.3
HGVS: NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu)
Allele change: Missense_P188L

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2P

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.