Variant (rsID / SNP)

rs145337669

rs145337669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,037,655. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FIG4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:110037655
Cytoband: 6q21
HGVS: NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
Allele change: Missense_Y58C

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4J

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.