ClinVar

NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser)

Genes:

LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [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: 178537169 (on Assembly GRCh38)
• Chr2: 179401896 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser)

HGVS:

• NC_000002.12:g.178537169G>A
• NG_011618.3:g.298634C>T
• NG_051363.1:g.19343G>A
• NM_001256850.1:c.95017C>T
• NM_001267550.2:c.99940C>TMANE SELECT
• NM_003319.4:c.72745C>T
• NM_133378.4:c.92236C>T
• NM_133432.3:c.73120C>T
• NM_133437.4:c.73321C>T
• NP_001243779.1:p.Pro31673Ser
• NP_001254479.2:p.Pro33314Ser
• NP_003310.4:p.Pro24249Ser
• NP_596869.4:p.Pro30746Ser
• NP_597676.3:p.Pro24374Ser
• NP_597681.4:p.Pro24441Ser
• LRG_391:g.298634C>T
• NC_000002.11:g.179401896G>A

This HGVS expression did not pass validation

Protein change:

P24249S

Links:

dbSNP: rs754605294

NCBI 1000 Genomes Browser:

rs754605294

Molecular consequence:

• NM_001256850.1:c.95017C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.99940C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.72745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.92236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.73120C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.73321C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1