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Variant (rsID / SNP)

rs879254192

GDAP1

rs879254192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,276,343. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GDAP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:75276343
Cytoband
8q21.11
HGVS
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
Allele change
Missense_R164Q

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.