Variant (rsID / SNP)

rs148514935

rs148514935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPB8. Location: chromosome 12, position 119,631,571. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HSPB8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:119631571
Cytoband: 12q24.23
HGVS: NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
Allele change: Missense_E167K

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2L|Neuronopathy, distal hereditary motor, type 2A

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.