Variant (rsID / SNP)
rs1127771
rs1127771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,146,303. Clinical significance in the table: Benign.
Reference-table entries
FIG4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:110146303
- Cytoband
- 6q21
- HGVS
- NM_014845.6(FIG4):c.2559G>A (p.Ser853=)
- Allele change
- Synonymous_S853S
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4J|Yunis-Varon syndrome|Bilateral parasagittal parieto-occipital polymicrogyria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.