ClinVar

NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)

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: 178542856 (on Assembly GRCh38)
• Chr2: 179407583 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)

Other names:

p.R30692H:CGT>CAT

HGVS:

• NC_000002.12:g.178542856C>T
• NG_011618.3:g.292947G>A
• NG_051363.1:g.25030C>T
• NM_001256850.1:c.92075G>A
• NM_001267550.2:c.96998G>AMANE SELECT
• NM_003319.4:c.69803G>A
• NM_133378.4:c.89294G>A
• NM_133432.3:c.70178G>A
• NM_133437.4:c.70379G>A
• NP_001243779.1:p.Arg30692His
• NP_001254479.2:p.Arg32333His
• NP_003310.4:p.Arg23268His
• NP_596869.4:p.Arg29765His
• NP_597676.3:p.Arg23393His
• NP_597681.4:p.Arg23460His
• LRG_391:g.292947G>A
• NC_000002.11:g.179407583C>T
• NM_003319.4:c.69803G>A
• c.89294G>A

This HGVS expression did not pass validation

Protein change:

R23268H

Links:

dbSNP: rs138846756

NCBI 1000 Genomes Browser:

rs138846756

Molecular consequence:

• NM_001256850.1:c.92075G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.96998G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.69803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.89294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.70178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.70379G>A - missense variant - [Sequence Ontology: SO:0001583]