ClinVar

NM_001927.4(DES):c.897+20G>A

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 219420676 (on Assembly GRCh38)
• Chr2: 220285398 (on Assembly GRCh37)

Preferred name:

NM_001927.4(DES):c.897+20G>A

HGVS:

• NC_000002.12:g.219420676G>A
• NG_008043.1:g.7300G>A
• NM_001382708.1:c.894+20G>A
• NM_001382709.1:c.735+330G>A
• NM_001382710.1:c.897+20G>A
• NM_001382711.1:c.897+20G>A
• NM_001382712.1:c.897+20G>A
• NM_001382713.1:c.627+20G>A
• NM_001927.4:c.897+20G>AMANE SELECT
• LRG_380:g.7300G>A
• NC_000002.11:g.220285398G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001382708.1:c.894+20G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382709.1:c.735+330G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382710.1:c.897+20G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382711.1:c.897+20G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382712.1:c.897+20G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382713.1:c.627+20G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001927.4:c.897+20G>A - intron variant - [Sequence Ontology: SO:0001627]