Variant (rsID / SNP)

rs28937906

rs28937906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDAP1. Location: chromosome 8, position 75,276,369. 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: 8:75276369
Cytoband: 8q21.11
HGVS: NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
Allele change: Missense_R173C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease recessive intermediate A|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.