Variant (rsID / SNP)

rs1539567

rs1539567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,242,166. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRSAM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:130242166
Cytoband: 9q33.3
HGVS: NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
Allele change: Missense_N318D

Associated conditions / phenotypes

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

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.