Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs207482230

TFG

rs207482230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFG. Location: chromosome 3, position 100,467,026. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TFGPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:100467026
Cytoband
3q12.2
HGVS
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)
Allele change
Missense_P285L

Associated conditions / phenotypes

Hereditary motor and sensory neuropathy, Okinawa type|Hereditary motor and sensory neuropathy, Okinawa type|Hereditary spastic paraplegia 57|Amyotrophic Lateral Sclerosis with Sensory Neuropathy|See cases

Public references

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