ClinVar

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7585178 (on Assembly GRCh38)
• Chr6: 7585411 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

Other names:

p.R2639Q:CGG>CAG

HGVS:

• NC_000006.12:g.7585178G>A
• NG_008803.1:g.48542G>A
• NM_001008844.3:c.6119G>A
• NM_001319034.2:c.6587G>A
• NM_004415.4:c.7916G>AMANE SELECT
• NP_001008844.1:p.Arg2040Gln
• NP_001305963.1:p.Arg2196Gln
• NP_004406.2:p.Arg2639Gln
• LRG_423t1:c.7916G>A
• LRG_423:g.48542G>A
• NC_000006.11:g.7585411G>A
• NM_004415.2:c.7916G>A
• NM_004415.3:c.7916G>A

This HGVS expression did not pass validation

Protein change:

R2040Q

Links:

dbSNP: rs116888866

NCBI 1000 Genomes Browser:

rs116888866

Molecular consequence:

• NM_001008844.3:c.6119G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.6587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.7916G>A - missense variant - [Sequence Ontology: SO:0001583]