ClinVar

NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)

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: 178527108 (on Assembly GRCh38)
• Chr2: 179391835 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)

HGVS:

• NC_000002.12:g.178527108G>A
• NG_011618.3:g.308695C>T
• NG_051363.1:g.9282G>A
• NM_001256850.1:c.102957C>T
• NM_001267550.2:c.107880C>TMANE SELECT
• NM_003319.4:c.80685C>T
• NM_133378.4:c.100176C>T
• NM_133432.3:c.81060C>T
• NM_133437.4:c.81261C>T
• NP_001243779.1:p.Asp34319=
• NP_001254479.2:p.Asp35960=
• NP_003310.4:p.Asp26895=
• NP_596869.4:p.Asp33392=
• NP_597676.3:p.Asp27020=
• NP_597681.4:p.Asp27087=
• LRG_391:g.308695C>T
• NC_000002.11:g.179391835G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs747964050

NCBI 1000 Genomes Browser:

rs747964050

Molecular consequence:

• NM_001256850.1:c.102957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.107880C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.80685C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.100176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.81060C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.81261C>T - synonymous variant - [Sequence Ontology: SO:0001819]