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Variant (rsID / SNP)

rs886063456

LRSAM1

rs886063456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,242,225. 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
9:130242225
Cytoband
9q33.3
HGVS
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
Allele change
Synonymous_S337S

Associated conditions / phenotypes

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

Public references

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