ClinVar

NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55154035 (on Assembly GRCh38)
• Chr19: 55665403 (on Assembly GRCh37)

Preferred name:

NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)

Other names:

p.E182K:GAG>AAG

HGVS:

• NC_000019.10:g.55154035C>T
• NG_007866.2:g.8698G>A
• NG_011829.2:g.204G>A
• NM_000363.5:c.544G>AMANE SELECT
• NP_000354.4:p.Glu182Lys
• LRG_432t1:c.544G>A
• LRG_432:g.8698G>A
• LRG_679:g.204G>A
• NC_000019.9:g.55665403C>T
• NM_000363.4:c.544G>A
• c.544G>A

This HGVS expression did not pass validation

Protein change:

E182K

Links:

dbSNP: rs397516355

NCBI 1000 Genomes Browser:

rs397516355

Molecular consequence:

• NM_000363.5:c.544G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1