ClinVar

NM_001267550.2(TTN):c.1068G>A (p.Glu356=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178795099 (on Assembly GRCh38)
• Chr2: 179659826 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.1068G>A (p.Glu356=)

HGVS:

• NC_000002.12:g.178795099C>T
• NG_011618.3:g.40704G>A
• NM_001256850.1:c.1068G>A
• NM_001267550.2:c.1068G>AMANE SELECT
• NM_003319.4:c.1068G>A
• NM_133378.4:c.1068G>A
• NM_133379.5:c.1068G>A
• NM_133432.3:c.1068G>A
• NM_133437.4:c.1068G>A
• NP_001243779.1:p.Glu356=
• NP_001254479.2:p.Glu356=
• NP_003310.4:p.Glu356=
• NP_596869.4:p.Glu356=
• NP_596870.2:p.Glu356=
• NP_597676.3:p.Glu356=
• NP_597681.4:p.Glu356=
• LRG_391t1:c.1068G>A
• LRG_391:g.40704G>A
• NC_000002.11:g.179659826C>T
• NM_001267550.1:c.1068G>A
• NM_003319.4:c.1068G>A
• p.Glu356Glu

This HGVS expression did not pass validation

Links:

dbSNP: rs144716589

NCBI 1000 Genomes Browser:

rs144716589

Molecular consequence:

• NM_001256850.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133379.5:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

4