Variant (rsID / SNP)

rs138108276

rs138108276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTI2. Location: chromosome 8, position 33,361,318. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTI2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:33361318
Cytoband: 8p12
HGVS: NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys)
Allele change: Missense_R324C

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.