ClinVar

NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7575355 (on Assembly GRCh38)
• Chr6: 7575588 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)

HGVS:

• NC_000006.12:g.7575355C>T
• NG_008803.1:g.38719C>T
• NM_001008844.3:c.2497C>T
• NM_001319034.2:c.2497C>T
• NM_004415.4:c.2497C>TMANE SELECT
• NP_001008844.1:p.Gln833Ter
• NP_001305963.1:p.Gln833Ter
• NP_004406.2:p.Gln833Ter
• LRG_423t1:c.2497C>T
• LRG_423:g.38719C>T
• NC_000006.11:g.7575588C>T
• NM_004415.2:c.2497C>T

This HGVS expression did not pass validation

Protein change:

Q833*

Links:

dbSNP: rs1561693779

NCBI 1000 Genomes Browser:

rs1561693779

Molecular consequence:

• NM_001008844.3:c.2497C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001319034.2:c.2497C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004415.4:c.2497C>T - nonsense - [Sequence Ontology: SO:0001587]