Variant (rsID / SNP)
rs76955068
rs76955068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,371,305. Clinical significance in the table: Benign.
Reference-table entries
SH3TC2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:148371305
- Cytoband
- 5q32
- HGVS
- NM_024577.4(SH3TC2):c.*12969C>A
- Allele change
- Silent
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.