Variant (rsID / SNP)

rs80338930

rs80338930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,406,653. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SH3TC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:148406653
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile)
Allele change: Missense_N881I

Associated conditions / phenotypes

Charcot-Marie-Tooth disease

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.