ClinVar

NM_004415.4(DSP):c.2211A>C (p.Glu737Asp)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7574166 (on Assembly GRCh38)
• Chr6: 7574399 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.2211A>C (p.Glu737Asp)

HGVS:

• NC_000006.12:g.7574166A>C
• NG_008803.1:g.37530A>C
• NM_001008844.3:c.2211A>C
• NM_001319034.2:c.2211A>C
• NM_004415.4:c.2211A>CMANE SELECT
• NP_001008844.1:p.Glu737Asp
• NP_001305963.1:p.Glu737Asp
• NP_004406.2:p.Glu737Asp
• NP_004406.2:p.Glu737Asp
• LRG_423t1:c.2211A>C
• LRG_423:g.37530A>C
• LRG_423p1:p.Glu737Asp
• NC_000006.11:g.7574399A>C
• NM_004415.2:c.2211A>C

This HGVS expression did not pass validation

Protein change:

E737D

Molecular consequence:

• NM_001008844.3:c.2211A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.2211A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.2211A>C - missense variant - [Sequence Ontology: SO:0001583]