Variant (rsID / SNP)

rs139617644

rs139617644 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCIRG1. Location: chromosome 11, position 67,816,547. Clinical significance in the table: Pathogenic.

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Reference-table entries

TCIRG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:67816547
Cytoband: 11q13.2
HGVS: NM_006019.4(TCIRG1):c.1674-1G>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive osteopetrosis 1|Osteopetrosis

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.