Variant (rsID / SNP)
rs61729092
rs61729092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,062,679. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FIG4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:110062679
- Cytoband
- 6q21
- HGVS
- NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
- Allele change
- Missense_T270A
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4J|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
