Variant (rsID / SNP)

rs7699

rs7699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPB3. Location: chromosome 5, position 53,751,901. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HSPB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:53751901
Cytoband: 5q11.2
HGVS: NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
Allele change: Synonymous_L94L

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 2C

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.