Variant (rsID / SNP)

rs879253863

rs879253863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM2. Location: chromosome 4, position 154,245,278. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TRIM2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:154245278
Cytoband: 4q31.3
HGVS: NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)
Allele change: Missense_D644A

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2R

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.