ClinVar

NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55154757 (on Assembly GRCh38)
• Chr19: 55666125 (on Assembly GRCh37)

Preferred name:

NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)

HGVS:

• NC_000019.10:g.55154757G>T
• NG_007866.2:g.7976C>A
• NM_000363.5:c.356C>AMANE SELECT
• NP_000354.4:p.Thr119Asn
• LRG_432t1:c.356C>A
• LRG_432:g.7976C>A
• NC_000019.9:g.55666125G>T
• NM_000363.4:c.356C>A
• c.356C>A

This HGVS expression did not pass validation

Protein change:

T119N

Links:

dbSNP: rs184709702

NCBI 1000 Genomes Browser:

rs184709702

Molecular consequence:

• NM_000363.5:c.356C>A - missense variant - [Sequence Ontology: SO:0001583]