ClinVar

NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)

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: 178532393 (on Assembly GRCh38)
• Chr2: 179397120 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)

HGVS:

• NC_000002.12:g.178532393G>A
• NG_011618.3:g.303410C>T
• NG_051363.1:g.14567G>A
• NM_001256850.1:c.99299C>T
• NM_001267550.2:c.104222C>TMANE SELECT
• NM_003319.4:c.77027C>T
• NM_133378.4:c.96518C>T
• NM_133432.3:c.77402C>T
• NM_133437.4:c.77603C>T
• NP_001243779.1:p.Thr33100Ile
• NP_001254479.2:p.Thr34741Ile
• NP_003310.4:p.Thr25676Ile
• NP_596869.4:p.Thr32173Ile
• NP_597676.3:p.Thr25801Ile
• NP_597681.4:p.Thr25868Ile
• LRG_391t1:c.104222C>T
• LRG_391:g.303410C>T
• NC_000002.11:g.179397120G>A
• NM_001267550.1:c.104222C>T

This HGVS expression did not pass validation

Protein change:

T25676I

Links:

dbSNP: rs727505306

NCBI 1000 Genomes Browser:

rs727505306

Molecular consequence:

• NM_001256850.1:c.99299C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.104222C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.77027C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.96518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.77402C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.77603C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1