ClinVar

NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

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: 178537626 (on Assembly GRCh38)
• Chr2: 179402353 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

HGVS:

• NC_000002.12:g.178537626G>A
• NG_011618.3:g.298177C>T
• NG_051363.1:g.19800G>A
• NM_001256850.1:c.94658C>T
• NM_001267550.2:c.99581C>TMANE SELECT
• NM_003319.4:c.72386C>T
• NM_133378.4:c.91877C>T
• NM_133432.3:c.72761C>T
• NM_133437.4:c.72962C>T
• NP_001243779.1:p.Pro31553Leu
• NP_001254479.2:p.Pro33194Leu
• NP_003310.4:p.Pro24129Leu
• NP_596869.4:p.Pro30626Leu
• NP_597676.3:p.Pro24254Leu
• NP_597681.4:p.Pro24321Leu
• LRG_391:g.298177C>T
• NC_000002.11:g.179402353G>A
• NR_038272.1:n.582G>A

This HGVS expression did not pass validation

Protein change:

P24129L

Links:

dbSNP: rs140025425

NCBI 1000 Genomes Browser:

rs140025425

Molecular consequence:

• NM_001256850.1:c.94658C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.99581C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.72386C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.91877C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.72761C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.72962C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_038272.1:n.582G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2