ClinVar

NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 15637804 (on Assembly GRCh38)
• Chr6: 15638035 (on Assembly GRCh37)

Preferred name:

NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)

HGVS:

• NC_000006.12:g.15637804C>T
• NG_009309.1:g.30237G>A
• NM_001271667.2:c.-82G>A
• NM_001271668.2:c.111G>A
• NM_001271669.2:c.57G>A
• NM_032122.5:c.162G>AMANE SELECT
• NM_183040.2:c.162G>A
• NP_001258597.1:p.Arg37=
• NP_001258598.1:p.Gly19=
• NP_115498.2:p.Arg54=
• NP_115498.2:p.Arg54=
• NP_898861.1:p.Arg54=
• LRG_588t1:c.162G>A
• LRG_588t2:c.162G>A
• LRG_588:g.30237G>A
• LRG_588p1:p.Arg54=
• LRG_588p2:p.Arg54=
• NC_000006.11:g.15638035C>T
• NM_032122.4:c.162G>A
• NR_036448.3:n.460G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs77460377

NCBI 1000 Genomes Browser:

rs77460377

Molecular consequence:

• NM_001271667.2:c.-82G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_036448.3:n.460G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001271668.2:c.111G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271669.2:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032122.5:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183040.2:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]