ClinVar

NM_001267550.2(TTN):c.91565-13C>T

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: 178550286 (on Assembly GRCh38)
• Chr2: 179415013 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.91565-13C>T

HGVS:

• NC_000002.12:g.178550286G>A
• NG_011618.3:g.285517C>T
• NG_051363.1:g.32460G>A
• NM_001256850.1:c.86642-13C>T
• NM_001267550.2:c.91565-13C>TMANE SELECT
• NM_003319.4:c.64370-13C>T
• NM_133378.4:c.83861-13C>T
• NM_133432.3:c.64745-13C>T
• NM_133437.4:c.64946-13C>T
• LRG_391:g.285517C>T
• NC_000002.11:g.179415013G>A
• NM_001267550.2:c.91565-13C>T
• c.83861-13C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200847757

NCBI 1000 Genomes Browser:

rs200847757

Molecular consequence:

• NM_001256850.1:c.86642-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.91565-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.64370-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.83861-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.64745-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.64946-13C>T - intron variant - [Sequence Ontology: SO:0001627]