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Variant (rsID / SNP)

rs104894312

TNNI2

rs104894312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI2. Location: chromosome 11, position 1,862,698. Clinical significance in the table: Pathogenic.

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Reference-table entries

TNNI2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:1862698
Cytoband
11p15.5
HGVS
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
Allele change
Nonsense_R156X

Associated conditions / phenotypes

Distal arthrogryposis type 2B1|Ulnar deviation of the wrist|Calcaneovalgus deformity|Distal arthrogryposis|Congenital finger flexion contractures

Public references

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