ClinVar

NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55151881 (on Assembly GRCh38)
• Chr19: 55663249 (on Assembly GRCh37)

Preferred name:

NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)

HGVS:

• NC_000019.10:g.55151881C>A
• NG_007866.2:g.10852G>T
• NG_011829.2:g.2358G>T
• NM_000363.5:c.586G>TMANE SELECT
• NP_000354.4:p.Asp196Tyr
• LRG_432t1:c.586G>T
• LRG_432:g.10852G>T
• LRG_679:g.2358G>T
• NC_000019.9:g.55663249C>A
• NM_000363.4:c.586G>T

This HGVS expression did not pass validation

Protein change:

D196Y

Links:

dbSNP: rs104894727

NCBI 1000 Genomes Browser:

rs104894727

Molecular consequence:

• NM_000363.5:c.586G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3