ClinVar

NM_032122.5(DTNBP1):c.811+70G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 15524456 (on Assembly GRCh38)
• Chr6: 15524687 (on Assembly GRCh37)

Preferred name:

NM_032122.5(DTNBP1):c.811+70G>T

HGVS:

• NC_000006.12:g.15524456C>A
• NG_009309.1:g.143585G>T
• NM_001271667.2:c.568+70G>T
• NM_001271668.2:c.760+70G>T
• NM_001271669.2:c.706+70G>T
• NM_032122.5:c.811+70G>TMANE SELECT
• NM_183040.2:c.881G>T
• NP_898861.1:p.Arg294Leu
• LRG_588t1:c.811+70G>T
• LRG_588t2:c.881G>T
• LRG_588:g.143585G>T
• LRG_588p2:p.Arg294Leu
• NC_000006.11:g.15524687C>A
• NM_032122.4:c.811+70G>T
• NR_036448.3:n.1179G>T

This HGVS expression did not pass validation

Protein change:

R294L

Links:

dbSNP: rs141441189

NCBI 1000 Genomes Browser:

rs141441189

Molecular consequence:

• NM_001271667.2:c.568+70G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271668.2:c.760+70G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271669.2:c.706+70G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_032122.5:c.811+70G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_183040.2:c.881G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_036448.3:n.1179G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]