Variant (rsID / SNP)
rs121908287
rs121908287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,036,336. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FIG4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:110036336
- Cytoband
- 6q21
- HGVS
- NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
- Allele change
- Missense_I41T
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4J|Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|Amyotrophic lateral sclerosis|Yunis-Varon syndrome|Bilateral parasagittal parieto-occipital polymicrogyria|Charcot-Marie-Tooth disease type 4J|Yunis-Varon syndrome|FIG4-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.