Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111356679

TFG

rs111356679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFG. Location: chromosome 3, position 100,467,232. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TFGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:100467232
Cytoband
3q12.2
HGVS
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)
Allele change
Missense_P354A

Associated conditions / phenotypes

Hereditary motor and sensory neuropathy, Okinawa type|Hereditary spastic paraplegia 57

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.