ClinVar

NM_004082.5(DCTN1):c.414+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 74376741 (on Assembly GRCh38)
• Chr2: 74603868 (on Assembly GRCh37)

Preferred name:

NM_004082.5(DCTN1):c.414+1G>A

HGVS:

• NC_000002.12:g.74376741C>T
• NG_008735.2:g.20347G>A
• NM_001135040.3:c.393+691G>A
• NM_001190836.2:c.342+691G>A
• NM_001190837.2:c.393+691G>A
• NM_001378991.1:c.363+1G>A
• NM_001378992.1:c.363+1G>A
• NM_004082.5:c.414+1G>AMANE SELECT
• LRG_237t1:c.414+1G>A
• LRG_237:g.20347G>A
• NC_000002.11:g.74603868C>T
• NM_004082.4:c.414+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs576198476

NCBI 1000 Genomes Browser:

rs576198476

Molecular consequence:

• NM_001135040.3:c.393+691G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190836.2:c.342+691G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001190837.2:c.393+691G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378991.1:c.363+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001378992.1:c.363+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004082.5:c.414+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]