ClinVar

NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7580679 (on Assembly GRCh38)
• Chr6: 7580912 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)

Other names:

p.R1497W:CGG>TGG

HGVS:

• NC_000006.12:g.7580679C>T
• NG_008803.1:g.44043C>T
• NM_001008844.3:c.3582+907C>T
• NM_001319034.2:c.4050+439C>T
• NM_004415.4:c.4489C>TMANE SELECT
• NP_004406.2:p.Arg1497Trp
• LRG_423t1:c.4489C>T
• LRG_423:g.44043C>T
• NC_000006.11:g.7580912C>T
• NM_004415.2:c.4489C>T
• NM_004415.3:c.4489C>T
• c.4489C>T

This HGVS expression did not pass validation

Protein change:

R1497W

Links:

dbSNP: rs148041814

NCBI 1000 Genomes Browser:

rs148041814

Molecular consequence:

• NM_001008844.3:c.3582+907C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001319034.2:c.4050+439C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004415.4:c.4489C>T - missense variant - [Sequence Ontology: SO:0001583]