ClinVar

NM_004415.4(DSP):c.7701C>T (p.Val2567=)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7584963 (on Assembly GRCh38)
• Chr6: 7585196 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.7701C>T (p.Val2567=)

HGVS:

• NC_000006.12:g.7584963C>T
• NG_008803.1:g.48327C>T
• NM_001008844.3:c.5904C>T
• NM_001319034.2:c.6372C>T
• NM_004415.4:c.7701C>TMANE SELECT
• NP_001008844.1:p.Val1968=
• NP_001305963.1:p.Val2124=
• NP_004406.2:p.Val2567=
• LRG_423t1:c.7701C>T
• LRG_423:g.48327C>T
• NC_000006.11:g.7585196C>T
• NC_000006.11:g.7585196C>T
• NM_004415.2:c.7701C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs772907439

NCBI 1000 Genomes Browser:

rs772907439

Molecular consequence:

• NM_001008844.3:c.5904C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319034.2:c.6372C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004415.4:c.7701C>T - synonymous variant - [Sequence Ontology: SO:0001819]