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Variant (rsID / SNP)

rs117692127

LRSAM1

rs117692127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,221,297. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRSAM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:130221297
Cytoband
9q33.3
HGVS
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
Allele change
Missense_D90N

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.