Variant (rsID / SNP)

rs864622663

rs864622663 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,427,493. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SH3TC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:148427493
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
Allele change: Nonsense_Q71X

Associated conditions / phenotypes

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.