Variant (rsID / SNP)
rs139192433
rs139192433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,388,512. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SH3TC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:148388512
- Cytoband
- 5q32
- HGVS
- NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
- Allele change
- Missense_R1127Q
Associated conditions / phenotypes
Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease|Toe walking|Toe walking|Pes cavus|Delayed speech and language development|limited range of motion of the upper ankle
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.