ClinVar

NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)

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: 178564233 (on Assembly GRCh38)
• Chr2: 179428960 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)

Other names:

p.R25659H:CGT>CAT

HGVS:

• NC_000002.12:g.178564233C>T
• NG_011618.3:g.271570G>A
• NG_051363.1:g.46407C>T
• NM_001256850.1:c.76976G>A
• NM_001267550.2:c.81899G>AMANE SELECT
• NM_003319.4:c.54704G>A
• NM_133378.4:c.74195G>A
• NM_133432.3:c.55079G>A
• NM_133437.4:c.55280G>A
• NP_001243779.1:p.Arg25659His
• NP_001254479.2:p.Arg27300His
• NP_003310.4:p.Arg18235His
• NP_596869.4:p.Arg24732His
• NP_597676.3:p.Arg18360His
• NP_597681.4:p.Arg18427His
• LRG_391:g.271570G>A
• NC_000002.11:g.179428960C>T
• NM_001267550.1:c.81899G>A
• Q8WZ42:p.Arg25659His
• c.74195G>A

This HGVS expression did not pass validation

Protein change:

R18235H

Links:

UniProtKB: Q8WZ42#VAR_040264; dbSNP: rs55850344

NCBI 1000 Genomes Browser:

rs55850344

Molecular consequence:

• NM_001256850.1:c.76976G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.81899G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.54704G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.74195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.55079G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.55280G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

14