ClinVar

NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7579336 (on Assembly GRCh38)
• Chr6: 7579569 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp)

HGVS:

• NC_000006.12:g.7579336C>G
• NG_008803.1:g.42700C>G
• NM_001008844.3:c.3146C>G
• NM_001319034.2:c.3146C>G
• NM_004415.4:c.3146C>GMANE SELECT
• NP_001008844.1:p.Ser1049Trp
• NP_001305963.1:p.Ser1049Trp
• NP_004406.2:p.Ser1049Trp
• LRG_423:g.42700C>G
• NC_000006.11:g.7579569C>G

This HGVS expression did not pass validation

Protein change:

S1049W

Links:

dbSNP: rs751361395

NCBI 1000 Genomes Browser:

rs751361395

Molecular consequence:

• NM_001008844.3:c.3146C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.3146C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.3146C>G - missense variant - [Sequence Ontology: SO:0001583]