ClinVar

NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178740901 (on Assembly GRCh38)
• Chr2: 179605628 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

HGVS:

• NC_000002.12:g.178740901G>C
• NG_011618.3:g.94902C>G
• NM_001256850.1:c.11381C>G
• NM_001267550.2:c.12332C>GMANE SELECT
• NM_003319.4:c.11243C>G
• NM_133378.4:c.10361-2541C>G
• NM_133432.3:c.11618C>G
• NM_133437.4:c.11819C>G
• NP_001243779.1:p.Ala3794Gly
• NP_001254479.2:p.Ala4111Gly
• NP_003310.4:p.Ala3748Gly
• NP_597676.3:p.Ala3873Gly
• NP_597681.4:p.Ala3940Gly
• LRG_391:g.94902C>G
• NC_000002.11:g.179605628G>C
• NM_003319.4:c.11243C>G

This HGVS expression did not pass validation

Protein change:

A3748G

Links:

dbSNP: rs140289517

NCBI 1000 Genomes Browser:

rs140289517

Molecular consequence:

• NM_133378.4:c.10361-2541C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.11381C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.12332C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.11243C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.11618C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.11819C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1