ClinVar

NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364314 (on Assembly GRCh38)
• Chr1: 201333442 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)

Other names:

p.R148Q:CGG>CAG

HGVS:

• NC_000001.11:g.201364314C>T
• NG_007556.1:g.18364G>A
• NM_000364.4:c.473G>A
• NM_001001430.3:c.443G>A
• NM_001001431.3:c.443G>A
• NM_001001432.3:c.428G>A
• NM_001276345.2:c.473G>AMANE SELECT
• NM_001276346.2:c.353G>A
• NM_001276347.2:c.443G>A
• NP_000355.2:p.Arg158Gln
• NP_001001430.1:p.Arg148Gln
• NP_001001431.1:p.Arg148Gln
• NP_001001432.1:p.Arg143Gln
• NP_001263274.1:p.Arg158Gln
• NP_001263275.1:p.Arg118Gln
• NP_001263276.1:p.Arg148Gln
• LRG_431t1:c.473G>A
• LRG_431:g.18364G>A
• LRG_431p1:p.Arg158Gln
• NC_000001.10:g.201333442C>T
• NM_001001430.1:c.443G>A
• NM_001276345.2:c.473G>A

This HGVS expression did not pass validation

Protein change:

R118Q

Links:

dbSNP: rs730881102

NCBI 1000 Genomes Browser:

rs730881102

Molecular consequence:

• NM_000364.4:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.428G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.353G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]