ClinVar

NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)

Genes:

LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
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: 178614225 (on Assembly GRCh38)
• Chr2: 179478952 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)

Other names:

p.R14750Q:CGA>CAA

HGVS:

• NC_000002.12:g.178614225C>T
• NG_011618.3:g.221578G>A
• NG_051363.1:g.96399C>T
• NM_001256850.1:c.44249G>A
• NM_001267550.2:c.49172G>AMANE SELECT
• NM_003319.4:c.21977G>A
• NM_133378.4:c.41468G>A
• NM_133432.3:c.22352G>A
• NM_133437.4:c.22553G>A
• NP_001243779.1:p.Arg14750Gln
• NP_001254479.2:p.Arg16391Gln
• NP_003310.4:p.Arg7326Gln
• NP_596869.4:p.Arg13823Gln
• NP_597676.3:p.Arg7451Gln
• NP_597681.4:p.Arg7518Gln
• LRG_391t1:c.49172G>A
• LRG_391:g.221578G>A
• NC_000002.11:g.179478952C>T
• NM_001267550.1:c.49172G>A
• NM_003319.4:c.21977G>A
• NR_038271.1:n.973C>T
• Q8WZ42:p.Arg14750Gln

This HGVS expression did not pass validation

Protein change:

R13823Q

Links:

UniProtKB: Q8WZ42#VAR_074294; dbSNP: rs200944827

NCBI 1000 Genomes Browser:

rs200944827

Molecular consequence:

• NM_001256850.1:c.44249G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.49172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.21977G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.41468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.22352G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.22553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_038271.1:n.973C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1