ClinVar

NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)

Genes:

LOC126806421:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 [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: 178543971 (on Assembly GRCh38)
• Chr2: 179408698 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)

HGVS:

• NC_000002.12:g.178543971C>T
• NG_011618.3:g.291832G>A
• NG_051363.1:g.26145C>T
• NM_001256850.1:c.91250G>A
• NM_001267550.2:c.96173G>AMANE SELECT
• NM_003319.4:c.68978G>A
• NM_133378.4:c.88469G>A
• NM_133432.3:c.69353G>A
• NM_133437.4:c.69554G>A
• NP_001243779.1:p.Arg30417Gln
• NP_001254479.2:p.Arg32058Gln
• NP_003310.4:p.Arg22993Gln
• NP_596869.4:p.Arg29490Gln
• NP_597676.3:p.Arg23118Gln
• NP_597681.4:p.Arg23185Gln
• LRG_391:g.291832G>A
• NC_000002.11:g.179408698C>T
• NM_001267550.1:c.96173G>A

This HGVS expression did not pass validation

Protein change:

R22993Q

Links:

dbSNP: rs374063064

NCBI 1000 Genomes Browser:

rs374063064

Molecular consequence:

• NM_001256850.1:c.91250G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.96173G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.68978G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.88469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.69353G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.69554G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1