Variant (rsID / SNP)

rs80338925

rs80338925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,407,326. Clinical significance in the table: Pathogenic.

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Reference-table entries

SH3TC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:148407326
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
Allele change: Missense_E657K

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease

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.