ClinVar

NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 15533253 (on Assembly GRCh38)
• Chr6: 15533484 (on Assembly GRCh37)

Preferred name:

NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)

HGVS:

• NC_000006.12:g.15533253A>C
• NG_009309.1:g.134788T>G
• NM_001271667.2:c.411T>G
• NM_001271668.2:c.603T>G
• NM_001271669.2:c.549T>G
• NM_032122.4:c.654T>G
• NM_032122.5:c.654T>GMANE SELECT
• NM_183040.2:c.654T>G
• NP_001258596.1:p.Ile137Met
• NP_001258597.1:p.Ile201Met
• NP_001258598.1:p.Ile183Met
• NP_115498.2:p.Ile218Met
• NP_898861.1:p.Ile218Met
• LRG_588t1:c.654T>G
• LRG_588t2:c.654T>G
• LRG_588:g.134788T>G
• LRG_588p2:p.Ile218Met
• NC_000006.11:g.15533484A>C
• NM_032122.5:c.654T>G
• NR_036448.3:n.952T>G

This HGVS expression did not pass validation

Protein change:

I137M

Links:

dbSNP: rs367543104

NCBI 1000 Genomes Browser:

rs367543104

Molecular consequence:

• NM_001271667.2:c.411T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271668.2:c.603T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271669.2:c.549T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032122.5:c.654T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_183040.2:c.654T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_036448.3:n.952T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]