ClinVar

NM_004415.4(DSP):c.3147G>A (p.Ser1049=)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7579337 (on Assembly GRCh38)
• Chr6: 7579570 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.3147G>A (p.Ser1049=)

HGVS:

• NC_000006.12:g.7579337G>A
• NG_008803.1:g.42701G>A
• NM_001008844.3:c.3147G>A
• NM_001319034.2:c.3147G>A
• NM_004415.4:c.3147G>AMANE SELECT
• NP_001008844.1:p.Ser1049=
• NP_001305963.1:p.Ser1049=
• NP_004406.2:p.Ser1049=
• LRG_423t1:c.3147G>A
• LRG_423:g.42701G>A
• NC_000006.11:g.7579570G>A
• NM_004415.2:c.3147G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs756341143

NCBI 1000 Genomes Browser:

rs756341143

Molecular consequence:

• NM_001008844.3:c.3147G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319034.2:c.3147G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004415.4:c.3147G>A - synonymous variant - [Sequence Ontology: SO:0001819]