Variant (rsID / SNP)

rs140786088

rs140786088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRSAM1. Location: chromosome 9, position 130,263,351. 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: 9:130263351
Cytoband: 9q34.11
HGVS: NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met)
Allele change: Missense_V659M

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.