ClinVar

NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)

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: 178552262 (on Assembly GRCh38)
• Chr2: 179416989 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)

HGVS:

• NC_000002.12:g.178552262A>G
• NG_011618.3:g.283541T>C
• NG_051363.1:g.34436A>G
• NM_001256850.1:c.85715T>C
• NM_001267550.2:c.90638T>CMANE SELECT
• NM_003319.4:c.63443T>C
• NM_133378.4:c.82934T>C
• NM_133432.3:c.63818T>C
• NM_133437.4:c.64019T>C
• NP_001243779.1:p.Ile28572Thr
• NP_001254479.1:p.Ile30213Thr
• NP_001254479.2:p.Ile30213Thr
• NP_003310.4:p.Ile21148Thr
• NP_596869.4:p.Ile27645Thr
• NP_597676.3:p.Ile21273Thr
• NP_597681.4:p.Ile21340Thr
• LRG_391t1:c.90638T>C
• LRG_391:g.283541T>C
• LRG_391p1:p.Ile30213Thr
• NC_000002.11:g.179416989A>G
• NM_001267550.1:c.90638T>C
• NM_133379.3:c.*193323T>C

This HGVS expression did not pass validation

Protein change:

I21148T

Links:

dbSNP: rs114026724

NCBI 1000 Genomes Browser:

rs114026724

Molecular consequence:

• NM_001256850.1:c.85715T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.90638T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.63443T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.82934T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.63818T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.64019T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2