ClinVar

NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178740389 (on Assembly GRCh38)
• Chr2: 179605116 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu)

HGVS:

• NC_000002.12:g.178740389T>G
• NG_011618.3:g.95414A>C
• NM_001256850.1:c.11893A>C
• NM_001267550.2:c.12844A>CMANE SELECT
• NM_003319.4:c.11755A>C
• NM_133378.4:c.10361-2029A>C
• NM_133432.3:c.12130A>C
• NM_133437.4:c.12331A>C
• NP_001243779.1:p.Ile3965Leu
• NP_001254479.2:p.Ile4282Leu
• NP_003310.4:p.Ile3919Leu
• NP_597676.3:p.Ile4044Leu
• NP_597681.4:p.Ile4111Leu
• LRG_391t1:c.12844A>C
• LRG_391:g.95414A>C
• NC_000002.11:g.179605116T>G
• NM_001267550.1:c.12844A>C

This HGVS expression did not pass validation

Protein change:

I3919L

Links:

dbSNP: rs56244420

NCBI 1000 Genomes Browser:

rs56244420

Molecular consequence:

• NM_133378.4:c.10361-2029A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.11893A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.12844A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.11755A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.12130A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.12331A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1