ClinVar

NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)

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: 178546485 (on Assembly GRCh38)
• Chr2: 179411212 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)

Other names:

p.L29975L:CTG>TTG

HGVS:

• NC_000002.12:g.178546485G>A
• NG_011618.3:g.289318C>T
• NG_051363.1:g.28659G>A
• NM_001256850.1:c.89923C>T
• NM_001267550.2:c.94846C>TMANE SELECT
• NM_003319.4:c.67651C>T
• NM_133378.4:c.87142C>T
• NM_133432.3:c.68026C>T
• NM_133437.4:c.68227C>T
• NP_001243779.1:p.Leu29975=
• NP_001254479.1:p.Leu31616=
• NP_001254479.2:p.Leu31616=
• NP_003310.4:p.Leu22551=
• NP_596869.4:p.Leu29048=
• NP_597676.3:p.Leu22676=
• NP_597681.4:p.Leu22743=
• LRG_391t1:c.94846C>T
• LRG_391:g.289318C>T
• LRG_391p1:p.Leu31616=
• NC_000002.11:g.179411212G>A
• NM_001267550.1:c.94846C>T
• NM_133379.3:c.*199100C>T
• c.87142C>T
• p.Leu29048Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs72648255

NCBI 1000 Genomes Browser:

rs72648255

Molecular consequence:

• NM_001256850.1:c.89923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.94846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.67651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.87142C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.68026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.68227C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

10