ClinVar

NM_001267550.2(TTN):c.11311+5216G>A

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178747908 (on Assembly GRCh38)
• Chr2: 179612635 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.11311+5216G>A

Other names:

p.C4831Y:TGC>TAC

HGVS:

• NC_000002.12:g.178747908C>T
• NG_011618.3:g.87895G>A
• NM_001256850.1:c.10360+5216G>A
• NM_001267550.2:c.11311+5216G>AMANE SELECT
• NM_003319.4:c.10222+5216G>A
• NM_133378.4:c.10360+5216G>A
• NM_133379.5:c.14492G>A
• NM_133432.3:c.10597+5216G>A
• NM_133437.4:c.10798+5216G>A
• NP_596870.2:p.Cys4831Tyr
• LRG_391:g.87895G>A
• NC_000002.11:g.179612635C>T
• NM_133379.3:c.14492G>A
• c.14492G>A

This HGVS expression did not pass validation

Protein change:

C4831Y

Links:

dbSNP: rs150615457

NCBI 1000 Genomes Browser:

rs150615457

Molecular consequence:

• NM_001256850.1:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.11311+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.10222+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.10597+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.10798+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133379.5:c.14492G>A - missense variant - [Sequence Ontology: SO:0001583]