ClinVar

NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)

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: 178547758 (on Assembly GRCh38)
• Chr2: 179412485 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)

HGVS:

• NC_000002.12:g.178547758G>A
• NG_011618.3:g.288045C>T
• NG_051363.1:g.29932G>A
• NM_001256850.1:c.88945C>T
• NM_001267550.2:c.93868C>TMANE SELECT
• NM_003319.4:c.66673C>T
• NM_133378.4:c.86164C>T
• NM_133432.3:c.67048C>T
• NM_133437.4:c.67249C>T
• NP_001243779.1:p.Leu29649=
• NP_001254479.2:p.Leu31290=
• NP_003310.4:p.Leu22225=
• NP_596869.4:p.Leu28722=
• NP_597676.3:p.Leu22350=
• NP_597681.4:p.Leu22417=
• LRG_391:g.288045C>T
• NC_000002.11:g.179412485G>A
• NM_003319.4:c.66673C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs557737090

NCBI 1000 Genomes Browser:

rs557737090

Molecular consequence:

• NM_001256850.1:c.88945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.93868C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.66673C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.86164C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.67048C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.67249C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2