ClinVar

NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7585724 (on Assembly GRCh38)
• Chr6: 7585957 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)

HGVS:

• NC_000006.12:g.7585724C>T
• NG_008803.1:g.49088C>T
• NM_001008844.3:c.6665C>T
• NM_001319034.2:c.7133C>T
• NM_004415.4:c.8462C>TMANE SELECT
• NP_001008844.1:p.Ser2222Leu
• NP_001305963.1:p.Ser2378Leu
• NP_004406.2:p.Ser2821Leu
• LRG_423t1:c.8462C>T
• LRG_423:g.49088C>T
• NC_000006.11:g.7585957C>T
• NM_004415.2:c.8462C>T

This HGVS expression did not pass validation

Protein change:

S2222L

Links:

dbSNP: rs201826850

NCBI 1000 Genomes Browser:

rs201826850

Molecular consequence:

• NM_001008844.3:c.6665C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319034.2:c.7133C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004415.4:c.8462C>T - missense variant - [Sequence Ontology: SO:0001583]