Variant (rsID / SNP)

rs199602956

rs199602956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPB1. Location: chromosome 7, position 75,932,011. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HSPB1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:75932011
Cytoband: 7q11.23
HGVS: NM_001540.5(HSPB1):c.-19C>T
Allele change: Silent

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 2B|Charcot-Marie-Tooth disease axonal type 2F|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.