Variant (rsID / SNP)

rs80338926

rs80338926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,407,323. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SH3TC2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:148407323
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
Allele change: Missense_R658C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Susceptibility to mononeuropathy of the median nerve, mild

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.