ClinVar

NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7576986 (on Assembly GRCh38)
• Chr6: 7577219 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)

Other names:

p.R941*:CGA>TGA

HGVS:

• NC_000006.12:g.7576986C>T
• NG_008803.1:g.40350C>T
• NM_001008844.3:c.2821C>T
• NM_001319034.2:c.2821C>T
• NM_004415.4:c.2821C>TMANE SELECT
• NP_001008844.1:p.Arg941Ter
• NP_001305963.1:p.Arg941Ter
• NP_004406.2:p.Arg941Ter
• LRG_423t1:c.2821C>T
• LRG_423:g.40350C>T
• NC_000006.11:g.7577219C>T
• NM_001008844.1:c.2821C>T
• NM_004415.2:c.2821C>T
• p.Arg941X

This HGVS expression did not pass validation

Protein change:

R941*

Links:

dbSNP: rs730880082

NCBI 1000 Genomes Browser:

rs730880082

Molecular consequence:

• NM_001008844.3:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001319034.2:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004415.4:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1