ClinVar

NM_004415.4(DSP):c.7575C>T (p.Gly2525=)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7584837 (on Assembly GRCh38)
• Chr6: 7585070 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.7575C>T (p.Gly2525=)

Other names:

p.G2525G:GGC>GGT

HGVS:

• NC_000006.12:g.7584837C>T
• NG_008803.1:g.48201C>T
• NM_001008844.3:c.5778C>T
• NM_001319034.2:c.6246C>T
• NM_004415.4:c.7575C>TMANE SELECT
• NP_001008844.1:p.Gly1926=
• NP_001305963.1:p.Gly2082=
• NP_004406.2:p.Gly2525=
• LRG_423t1:c.7575C>T
• LRG_423:g.48201C>T
• NC_000006.11:g.7585070C>T
• NM_004415.2:c.7575C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780156504

NCBI 1000 Genomes Browser:

rs780156504

Molecular consequence:

• NM_001008844.3:c.5778C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319034.2:c.6246C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004415.4:c.7575C>T - synonymous variant - [Sequence Ontology: SO:0001819]