ClinVar

NM_000363.5(TNNI3):c.276G>A (p.Glu92=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55156207 (on Assembly GRCh38)
• Chr19: 55667575 (on Assembly GRCh37)

Preferred name:

NM_000363.5(TNNI3):c.276G>A (p.Glu92=)

HGVS:

• NC_000019.10:g.55156207C>T
• NG_007866.2:g.6526G>A
• NM_000363.5:c.276G>AMANE SELECT
• NP_000354.4:p.Glu92=
• LRG_432t1:c.276G>A
• LRG_432:g.6526G>A
• NC_000019.9:g.55667575C>T
• NM_000363.4:c.276G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1407023193

NCBI 1000 Genomes Browser:

rs1407023193

Molecular consequence:

• NM_000363.5:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]