ClinVar

NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)

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: 178532641 (on Assembly GRCh38)
• Chr2: 179397368 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)

Other names:

p.I33017I:ATC>ATT

HGVS:

• NC_000002.12:g.178532641G>A
• NG_011618.3:g.303162C>T
• NG_051363.1:g.14815G>A
• NM_001256850.1:c.99051C>T
• NM_001267550.2:c.103974C>TMANE SELECT
• NM_003319.4:c.76779C>T
• NM_133378.4:c.96270C>T
• NM_133432.3:c.77154C>T
• NM_133437.4:c.77355C>T
• NP_001243779.1:p.Ile33017=
• NP_001254479.1:p.Ile34658=
• NP_001254479.2:p.Ile34658=
• NP_003310.4:p.Ile25593=
• NP_596869.4:p.Ile32090=
• NP_597676.3:p.Ile25718=
• NP_597681.4:p.Ile25785=
• LRG_391t1:c.103974C>T
• LRG_391:g.303162C>T
• LRG_391p1:p.Ile34658=
• NC_000002.11:g.179397368G>A
• NM_001267550.1:c.103974C>T
• NM_133379.3:c.*212944C>T
• NP_596869.4:p.(=)
• c.96270C>T
• p.Ile32090Ile
• p.Ile34658Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs199714102

NCBI 1000 Genomes Browser:

rs199714102

Molecular consequence:

• NM_001256850.1:c.99051C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.103974C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.76779C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.96270C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.77154C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.77355C>T - synonymous variant - [Sequence Ontology: SO:0001819]