Variant (rsID / SNP)

rs80338931

rs80338931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,406,585. 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: 5:148406585
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
Allele change: Nonsense_R904X

Associated conditions / phenotypes

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

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.