Variant (rsID / SNP)

rs121908114

rs121908114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,275,286. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GDAP1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:75275286
Cytoband: 8q21.11
HGVS: NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
Allele change: Missense_P122L

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|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.