ClinVar

NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)

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: 178577205 (on Assembly GRCh38)
• Chr2: 179441932 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)

Other names:

p.P20476S:CCA>TCA

HGVS:

• NC_000002.12:g.178577205G>A
• NG_011618.3:g.258598C>T
• NG_051363.1:g.59379G>A
• NM_001256850.1:c.64207C>T
• NM_001267550.2:c.69130C>TMANE SELECT
• NM_003319.4:c.41935C>T
• NM_133378.4:c.61426C>T
• NM_133432.3:c.42310C>T
• NM_133437.4:c.42511C>T
• NP_001243779.1:p.Pro21403Ser
• NP_001254479.2:p.Pro23044Ser
• NP_003310.4:p.Pro13979Ser
• NP_596869.4:p.Pro20476Ser
• NP_597676.3:p.Pro14104Ser
• NP_597681.4:p.Pro14171Ser
• LRG_391t1:c.69130C>T
• LRG_391:g.258598C>T
• NC_000002.11:g.179441932G>A
• NM_001267550.1:c.69130C>T
• Q8WZ42:p.Pro21403Ser
• c.61426C>T

This HGVS expression did not pass validation

Protein change:

P13979S

Links:

UniProtKB: Q8WZ42#VAR_040219; dbSNP: rs55980498

Molecular consequence:

• NM_001256850.1:c.64207C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.69130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.41935C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.61426C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.42310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.42511C>T - missense variant - [Sequence Ontology: SO:0001583]