Variant (rsID / SNP)

rs377357931

rs377357931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,081,456. Clinical significance in the table: Pathogenic.

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Reference-table entries

FIG4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:110081456
Cytoband: 6q21
HGVS: NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
Allele change: Nonsense_R381X

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4J|Inborn genetic diseases|Charcot-Marie-Tooth disease type 4

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.