ClinVar

NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)

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: 178546875 (on Assembly GRCh38)
• Chr2: 179411602 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)

Other names:

p.V29877A:GTC>GCC

HGVS:

• NC_000002.12:g.178546875A>G
• NG_011618.3:g.288928T>C
• NG_051363.1:g.29049A>G
• NM_001256850.1:c.89630T>C
• NM_001267550.2:c.94553T>CMANE SELECT
• NM_003319.4:c.67358T>C
• NM_133378.4:c.86849T>C
• NM_133432.3:c.67733T>C
• NM_133437.4:c.67934T>C
• NP_001243779.1:p.Val29877Ala
• NP_001254479.2:p.Val31518Ala
• NP_003310.4:p.Val22453Ala
• NP_596869.4:p.Val28950Ala
• NP_597676.3:p.Val22578Ala
• NP_597681.4:p.Val22645Ala
• LRG_391:g.288928T>C
• NC_000002.11:g.179411602A>G
• NM_001267550.1:c.94553T>C

This HGVS expression did not pass validation

Protein change:

V22453A

Links:

dbSNP: rs377016580

NCBI 1000 Genomes Browser:

rs377016580

Molecular consequence:

• NM_001256850.1:c.89630T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.94553T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.67358T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.86849T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.67733T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.67934T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1