Variant (rsID / SNP)

rs199743509

rs199743509 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED25, FUZ. Location: chromosome 19, position 50,321,822. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MED25Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:50321822
Cytoband: 19q13.33
HGVS: NM_030973.4(MED25):c.135-6T>G
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease

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.