ClinVar

NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)

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: 178539822 (on Assembly GRCh38)
• Chr2: 179404549 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)

HGVS:

• NC_000002.12:g.178539822C>T
• NG_011618.3:g.295981G>A
• NG_051363.1:g.21996C>T
• NM_001256850.1:c.93320G>A
• NM_001267550.2:c.98243G>AMANE SELECT
• NM_003319.4:c.71048G>A
• NM_133378.4:c.90539G>A
• NM_133432.3:c.71423G>A
• NM_133437.4:c.71624G>A
• NP_001243779.1:p.Arg31107His
• NP_001254479.2:p.Arg32748His
• NP_003310.4:p.Arg23683His
• NP_596869.4:p.Arg30180His
• NP_597676.3:p.Arg23808His
• NP_597681.4:p.Arg23875His
• LRG_391:g.295981G>A
• NC_000002.11:g.179404549C>T
• NM_001267550.2:c.98243G>A
• NM_003319.4:c.71048G>A
• NR_038272.1:n.1772C>T
• c.90539G>A

This HGVS expression did not pass validation

Protein change:

R23683H

Links:

dbSNP: rs397517775

NCBI 1000 Genomes Browser:

rs397517775

Molecular consequence:

• NM_001256850.1:c.93320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.98243G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.71048G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.90539G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.71423G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.71624G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_038272.1:n.1772C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2