ClinVar

NM_001267550.2(TTN):c.21012C>T (p.Ser7004=)

Genes:

LOC126806428:BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178724363 (on Assembly GRCh38)
• Chr2: 179589090 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.21012C>T (p.Ser7004=)

HGVS:

• NC_000002.12:g.178724363G>A
• NG_011618.3:g.111440C>T
• NG_082748.1:g.829G>A
• NM_001256850.1:c.20061C>T
• NM_001267550.2:c.21012C>TMANE SELECT
• NM_003319.4:c.13282+13719C>T
• NM_133378.4:c.17280C>T
• NM_133432.3:c.13657+13719C>T
• NM_133437.4:c.13858+13719C>T
• NP_001243779.1:p.Ser6687=
• NP_001254479.1:p.Ser7004=
• NP_001254479.2:p.Ser7004=
• NP_596869.4:p.Ser5760=
• LRG_391t1:c.21012C>T
• LRG_391:g.111440C>T
• LRG_391p1:p.Ser7004=
• NC_000002.11:g.179589090G>A
• NM_001267550.1:c.21012C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1437753880

NCBI 1000 Genomes Browser:

rs1437753880

Molecular consequence:

• NM_003319.4:c.13282+13719C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+13719C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+13719C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.20061C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.21012C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.17280C>T - synonymous variant - [Sequence Ontology: SO:0001819]