Variant (rsID / SNP)

rs760403428

rs760403428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1, RPL12. Location: chromosome 9, position 130,213,938. 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: 9:130213938
Cytoband: 9q33.3
HGVS: NM_001005373.4(LRSAM1):c.-199A>G
Allele change: Silent

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.