ClinVar

NM_032122.5(DTNBP1):c.223-18C>T

Gene:

DTNBP1:dystrobrevin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 15627493 (on Assembly GRCh38)
• Chr6: 15627724 (on Assembly GRCh37)

Preferred name:

NM_032122.5(DTNBP1):c.223-18C>T

HGVS:

• NC_000006.12:g.15627493G>A
• NG_009309.1:g.40548C>T
• NM_001271667.2:c.-21-18C>T
• NM_001271668.2:c.172-18C>T
• NM_001271669.2:c.118-18C>T
• NM_032122.5:c.223-18C>TMANE SELECT
• NM_183040.2:c.223-18C>T
• LRG_588t2:c.223-18C>T
• LRG_588:g.40548C>T
• NC_000006.11:g.15627724G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs377659695

NCBI 1000 Genomes Browser:

rs377659695

Molecular consequence:

• NM_001271667.2:c.-21-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271668.2:c.172-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271669.2:c.118-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_032122.5:c.223-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_183040.2:c.223-18C>T - intron variant - [Sequence Ontology: SO:0001627]