ClinVar

NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178764191 (on Assembly GRCh38)
• Chr2: 179628918 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)

Other names:

p.R3367Q:CGG>CAG

HGVS:

• NC_000002.12:g.178764191C>T
• NG_011618.3:g.71612G>A
• NM_001256850.1:c.10100G>A
• NM_001267550.2:c.10100G>AMANE SELECT
• NM_003319.4:c.9962G>A
• NM_133378.4:c.10100G>A
• NM_133379.5:c.10100G>A
• NM_133432.3:c.9962G>A
• NM_133437.4:c.9962G>A
• NP_001243779.1:p.Arg3367Gln
• NP_001254479.2:p.Arg3367Gln
• NP_003310.4:p.Arg3321Gln
• NP_596869.4:p.Arg3367Gln
• NP_596870.2:p.Arg3367Gln
• NP_597676.3:p.Arg3321Gln
• NP_597681.4:p.Arg3321Gln
• LRG_391:g.71612G>A
• NC_000002.11:g.179628918C>T
• NM_001267550.1:c.10100G>A
• Q8WZ42:p.Arg3367Gln
• c.10100G>A

This HGVS expression did not pass validation

Protein change:

R3321Q

Links:

UniProtKB: Q8WZ42#VAR_040123; dbSNP: rs34819099

NCBI 1000 Genomes Browser:

rs34819099

Molecular consequence:

• NM_001256850.1:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]