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Variant (rsID / SNP)

rs104894075

GDAP1

rs104894075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,275,175. Clinical significance in the table: Pathogenic.

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Reference-table entries

GDAP1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:75275175
Cytoband
8q21.11
HGVS
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
Allele change
Nonsense_S85X

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Public references

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