ClinVar

NM_001267550.2(TTN):c.17183-7C>T

Genes:

LOC126806431:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178731590 (on Assembly GRCh38)
• Chr2: 179596317 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.17183-7C>T

HGVS:

• NC_000002.12:g.178731590G>A
• NG_011618.3:g.104213C>T
• NM_001256850.1:c.16232-7C>T
• NM_001267550.2:c.17183-7C>TMANE SELECT
• NM_003319.4:c.13282+6492C>T
• NM_133378.4:c.13451-7C>T
• NM_133432.3:c.13657+6492C>T
• NM_133437.4:c.13858+6492C>T
• LRG_391:g.104213C>T
• NC_000002.11:g.179596317G>A
• NM_001267550.1:c.17183-7C>T
• c.13451-7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs371785683

NCBI 1000 Genomes Browser:

rs371785683

Molecular consequence:

• NM_001256850.1:c.16232-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.17183-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.13282+6492C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.13451-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+6492C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+6492C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

7