Variant (rsID / SNP)

rs104894076

rs104894076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,272,543. 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: 8:75272543
Cytoband: 8q21.11
HGVS: NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
Allele change: Missense_R52H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4A

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.