ClinVar

NM_004082.5(DCTN1):c.34-11G>T

Gene:

DCTN1:dynactin subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 74378256 (on Assembly GRCh38)
• Chr2: 74605383 (on Assembly GRCh37)

Preferred name:

NM_004082.5(DCTN1):c.34-11G>T

HGVS:

• NC_000002.12:g.74378256C>A
• NG_008735.2:g.18832G>T
• NM_001135040.3:c.34-11G>T
• NM_001190836.2:c.-18-11G>T
• NM_001190837.2:c.34-11G>T
• NM_001378991.1:c.-18-11G>T
• NM_001378992.1:c.-18-11G>T
• NM_004082.5:c.34-11G>TMANE SELECT
• LRG_237t1:c.34-11G>T
• LRG_237:g.18832G>T
• NC_000002.11:g.74605383C>A
• NM_004082.4:c.34-11G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs73948789

NCBI 1000 Genomes Browser:

rs73948789

Molecular consequence:

• NM_001135040.3:c.34-11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190836.2:c.-18-11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190837.2:c.34-11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378991.1:c.-18-11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378992.1:c.-18-11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004082.5:c.34-11G>T - intron variant - [Sequence Ontology: SO:0001627]