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Variant (rsID / SNP)

rs34227834

TCIRG1

rs34227834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCIRG1. Location: chromosome 11, position 67,810,477. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TCIRG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67810477
Cytoband
11q13.2
HGVS
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive osteopetrosis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.