ClinVar

NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)

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: 178589803 (on Assembly GRCh38)
• Chr2: 179454530 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)

Other names:

p.R19000Q:CGA>CAA

HGVS:

• NC_000002.12:g.178589803C>T
• NG_011618.3:g.246000G>A
• NG_051363.1:g.71977C>T
• NM_001256850.1:c.56999G>A
• NM_001267550.2:c.61922G>AMANE SELECT
• NM_003319.4:c.34727G>A
• NM_133378.4:c.54218G>A
• NM_133432.3:c.35102G>A
• NM_133437.4:c.35303G>A
• NP_001243779.1:p.Arg19000Gln
• NP_001254479.2:p.Arg20641Gln
• NP_003310.4:p.Arg11576Gln
• NP_596869.4:p.Arg18073Gln
• NP_597676.3:p.Arg11701Gln
• NP_597681.4:p.Arg11768Gln
• LRG_391t1:c.61922G>A
• LRG_391:g.246000G>A
• NC_000002.11:g.179454530C>T
• NM_001267550.1:c.61922G>A
• c.54218G>A

This HGVS expression did not pass validation

Protein change:

R11576Q

Links:

dbSNP: rs199895260

NCBI 1000 Genomes Browser:

rs199895260

Molecular consequence:

• NM_001256850.1:c.56999G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.61922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.34727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.54218G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.35102G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.35303G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2