ClinVar

NM_001267550.2(TTN):c.99945C>T (p.Pro33315=)

Genes:

LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [Gene]
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: 178537164 (on Assembly GRCh38)
• Chr2: 179401891 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.99945C>T (p.Pro33315=)

HGVS:

• NC_000002.12:g.178537164G>A
• NG_011618.3:g.298639C>T
• NG_051363.1:g.19338G>A
• NM_001256850.1:c.95022C>T
• NM_001267550.2:c.99945C>TMANE SELECT
• NM_003319.4:c.72750C>T
• NM_133378.4:c.92241C>T
• NM_133432.3:c.73125C>T
• NM_133437.4:c.73326C>T
• NP_001243779.1:p.Pro31674=
• NP_001254479.2:p.Pro33315=
• NP_003310.4:p.Pro24250=
• NP_596869.4:p.Pro30747=
• NP_597676.3:p.Pro24375=
• NP_597681.4:p.Pro24442=
• LRG_391:g.298639C>T
• NC_000002.11:g.179401891G>A
• NM_003319.4:c.72750C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs751111629

NCBI 1000 Genomes Browser:

rs751111629

Molecular consequence:

• NM_001256850.1:c.95022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.99945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.72750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.92241C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.73125C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.73326C>T - synonymous variant - [Sequence Ontology: SO:0001819]