Variant (rsID / SNP)
rs80338933
rs80338933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,406,435. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SH3TC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:148406435
- Cytoband
- 5q32
- HGVS
- NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
- Allele change
- Nonsense_R954X
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4|SH3TC2-Related Disorders|Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Inborn genetic diseases|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.