Variant (rsID / SNP)

rs138376077

rs138376077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,059,611. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FIG4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:110059611
Cytoband: 6q21
HGVS: NM_014845.6(FIG4):c.730C>T (p.Arg244Cys)
Allele change: Missense_R244C

Associated conditions / phenotypes

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.