Variant (rsID / SNP)

rs145382004

rs145382004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,251,757. Clinical significance in the table: Likely benign.

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Reference-table entries

LRSAM1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:130251757
Cytoband: 9q33.3
HGVS: NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu)
Allele change: Missense_Q461L

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.