Variant (rsID / SNP)

rs104894311

rs104894311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI2. Location: chromosome 11, position 1,862,753. 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: 11:1862753
Cytoband: 11p15.5
HGVS: NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
Allele change: Missense_R174Q

Associated conditions / phenotypes

Distal arthrogryposis type 2B1

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.