ClinVar

NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)

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: 178535633 (on Assembly GRCh38)
• Chr2: 179400360 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)

HGVS:

• NC_000002.12:g.178535633C>T
• NG_011618.3:g.300170G>A
• NG_051363.1:g.17807C>T
• NM_001256850.1:c.96059G>A
• NM_001267550.2:c.100982G>AMANE SELECT
• NM_003319.4:c.73787G>A
• NM_133378.4:c.93278G>A
• NM_133432.3:c.74162G>A
• NM_133437.4:c.74363G>A
• NP_001243779.1:p.Arg32020Lys
• NP_001254479.2:p.Arg33661Lys
• NP_003310.4:p.Arg24596Lys
• NP_596869.4:p.Arg31093Lys
• NP_597676.3:p.Arg24721Lys
• NP_597681.4:p.Arg24788Lys
• LRG_391:g.300170G>A
• NC_000002.11:g.179400360C>T

This HGVS expression did not pass validation

Protein change:

R24596K

Links:

dbSNP: rs201857158

NCBI 1000 Genomes Browser:

rs201857158

Molecular consequence:

• NM_001256850.1:c.96059G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.100982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.73787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.93278G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.74162G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.74363G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1