ClinVar

NM_004415.4(DSP):c.*305C>A

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7586183 (on Assembly GRCh38)
• Chr6: 7586416 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.*305C>A

HGVS:

• NC_000006.12:g.7586183C>A
• NG_008803.1:g.49547C>A
• NM_001008844.3:c.*305C>A
• NM_001319034.2:c.*305C>A
• NM_004415.4:c.*305C>AMANE SELECT
• LRG_423t1:c.*305C>A
• LRG_423:g.49547C>A
• NC_000006.11:g.7586416C>A
• NM_004415.2:c.*305C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886061751

NCBI 1000 Genomes Browser:

rs886061751

Molecular consequence:

• NM_001008844.3:c.*305C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319034.2:c.*305C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004415.4:c.*305C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]