ClinVar

NM_001267550.2(TTN):c.106273G>A (p.Gly35425Arg)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178530342 (on Assembly GRCh38)
• Chr2: 179395069 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.106273G>A (p.Gly35425Arg)

HGVS:

• NC_000002.12:g.178530342C>T
• NG_011618.3:g.305461G>A
• NG_051363.1:g.12516C>T
• NG_168197.1:g.18C>T
• NM_001256850.1:c.101350G>A
• NM_001267550.2:c.106273G>AMANE SELECT
• NM_003319.4:c.79078G>A
• NM_133378.4:c.98569G>A
• NM_133432.3:c.79453G>A
• NM_133437.4:c.79654G>A
• NP_001243779.1:p.Gly33784Arg
• NP_001254479.1:p.Gly35425Arg
• NP_001254479.2:p.Gly35425Arg
• NP_003310.4:p.Gly26360Arg
• NP_596869.4:p.Gly32857Arg
• NP_597676.3:p.Gly26485Arg
• NP_597681.4:p.Gly26552Arg
• LRG_391t1:c.106273G>A
• LRG_391:g.305461G>A
• LRG_391p1:p.Gly35425Arg
• NC_000002.11:g.179395069C>T
• NM_001267550.1:c.106273G>A

This HGVS expression did not pass validation

Protein change:

G26360R

Molecular consequence:

• NM_001256850.1:c.101350G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.106273G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.79078G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.98569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.79453G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.79654G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1