Variant (rsID / SNP)

rs140191063

rs140191063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCIRG1. Location: chromosome 11, position 67,814,943. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TCIRG1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:67814943
Cytoband: 11q13.2
HGVS: NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
Allele change: Missense_M105I

Associated conditions / phenotypes

Autosomal recessive osteopetrosis 1

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.