ClinVar

NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)

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: 178547580 (on Assembly GRCh38)
• Chr2: 179412307 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)

Other names:

p.R29708H:CGT>CAT

HGVS:

• NC_000002.12:g.178547580C>T
• NG_011618.3:g.288223G>A
• NG_051363.1:g.29754C>T
• NM_001256850.1:c.89123G>A
• NM_001267550.2:c.94046G>AMANE SELECT
• NM_003319.4:c.66851G>A
• NM_133378.4:c.86342G>A
• NM_133432.3:c.67226G>A
• NM_133437.4:c.67427G>A
• NP_001243779.1:p.Arg29708His
• NP_001254479.2:p.Arg31349His
• NP_003310.4:p.Arg22284His
• NP_596869.4:p.Arg28781His
• NP_597676.3:p.Arg22409His
• NP_597681.4:p.Arg22476His
• LRG_391t1:c.94046G>A
• LRG_391:g.288223G>A
• NC_000002.11:g.179412307C>T
• NM_001267550.1:c.94046G>A
• NM_003319.4:c.66851G>A
• c.86342G>A

This HGVS expression did not pass validation

Protein change:

R22284H

Links:

dbSNP: rs181104321

NCBI 1000 Genomes Browser:

rs181104321

Molecular consequence:

• NM_001256850.1:c.89123G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.94046G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.66851G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.86342G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.67226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.67427G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

6