Variant (rsID / SNP)

rs6772054

rs6772054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFG. Location: chromosome 3, position 100,467,262. Clinical significance in the table: Benign.

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Reference-table entries

TFGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:100467262
Cytoband: 3q12.2
HGVS: NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)
Allele change: Missense_T364P

Associated conditions / phenotypes

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

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.