ClinVar

NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178658723 (on Assembly GRCh38)
• Chr2: 179523450 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)

HGVS:

• NC_000002.12:g.178658723C>T
• NG_011618.3:g.177080G>A
• NM_001256850.1:c.34522+282G>A
• NM_001267550.2:c.37525G>AMANE SELECT
• NM_003319.4:c.13283-16406G>A
• NM_133378.4:c.31741+282G>A
• NM_133432.3:c.13658-16406G>A
• NM_133437.4:c.13859-16406G>A
• NP_001254479.2:p.Glu12509Lys
• LRG_391:g.177080G>A
• NC_000002.11:g.179523450C>T

This HGVS expression did not pass validation

Protein change:

E12509K

Links:

dbSNP: rs201797790

NCBI 1000 Genomes Browser:

rs201797790

Molecular consequence:

• NM_001256850.1:c.34522+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.13283-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13658-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13859-16406G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.37525G>A - missense variant - [Sequence Ontology: SO:0001583]