Variant (rsID / SNP)
rs367662394
rs367662394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPB1. Location: chromosome 7, position 75,932,109. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HSPB1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:75932109
- Cytoband
- 7q11.23
- HGVS
- NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
- Allele change
- Missense_R27P
Associated conditions / phenotypes
Charcot-Marie-Tooth disease axonal type 2F|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.