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Variant (rsID / SNP)

rs140811185

GDAP1

rs140811185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,276,531. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GDAP1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
8:75276531
Cytoband
8q21.11
HGVS
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
Allele change
Missense_A227S

Associated conditions / phenotypes

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

Public references

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