ClinVar

NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7579411 (on Assembly GRCh38)
• Chr6: 7579644 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu)

HGVS:

• NC_000006.12:g.7579411C>A
• NG_008803.1:g.42775C>A
• NM_001008844.3:c.3221C>A
• NM_001319034.2:c.3221C>A
• NM_004415.4:c.3221C>AMANE SELECT
• NP_001008844.1:p.Ala1074Glu
• NP_001305963.1:p.Ala1074Glu
• NP_004406.2:p.Ala1074Glu
• LRG_423t1:c.3221C>A
• LRG_423:g.42775C>A
• NC_000006.11:g.7579644C>A
• NM_004415.2:c.3221C>A

This HGVS expression did not pass validation

Protein change:

A1074E

Links:

dbSNP: rs745849763

NCBI 1000 Genomes Browser:

rs745849763

Molecular consequence:

• NM_001008844.3:c.3221C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.3221C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.3221C>A - missense variant - [Sequence Ontology: SO:0001583]