ClinVar

NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7585180 (on Assembly GRCh38)
• Chr6: 7585413 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)

HGVS:

• NC_000006.12:g.7585180G>T
• NG_008803.1:g.48544G>T
• NM_001008844.3:c.6121G>T
• NM_001319034.2:c.6589G>T
• NM_004415.4:c.7918G>TMANE SELECT
• NP_001008844.1:p.Gly2041Cys
• NP_001305963.1:p.Gly2197Cys
• NP_004406.2:p.Gly2640Cys
• LRG_423t1:c.7918G>T
• LRG_423:g.48544G>T
• NC_000006.11:g.7585413G>T
• NM_004415.2:c.7918G>T

This HGVS expression did not pass validation

Protein change:

G2041C

Links:

dbSNP: rs770390645

NCBI 1000 Genomes Browser:

rs770390645

Molecular consequence:

• NM_001008844.3:c.6121G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.6589G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.7918G>T - missense variant - [Sequence Ontology: SO:0001583]