ClinVar

NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178717748 (on Assembly GRCh38)
• Chr2: 179582475 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)

HGVS:

• NC_000002.12:g.178717748G>A
• NG_011618.3:g.118055C>T
• NM_001256850.1:c.24175C>T
• NM_001267550.2:c.25126C>TMANE SELECT
• NM_003319.4:c.13282+20334C>T
• NM_133378.4:c.21394C>T
• NM_133432.3:c.13657+20334C>T
• NM_133437.4:c.13858+20334C>T
• NP_001243779.1:p.Pro8059Ser
• NP_001254479.2:p.Pro8376Ser
• NP_596869.4:p.Pro7132Ser
• LRG_391:g.118055C>T
• NC_000002.11:g.179582475G>A

This HGVS expression did not pass validation

Protein change:

P7132S

Links:

dbSNP: rs375209098

NCBI 1000 Genomes Browser:

rs375209098

Molecular consequence:

• NM_003319.4:c.13282+20334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+20334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+20334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.24175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.25126C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.21394C>T - missense variant - [Sequence Ontology: SO:0001583]