ClinVar

NM_004415.4(DSP):c.12C>T (p.Asn4=)

Genes:

DSP-AS1:DSP antisense RNA 1 [Gene - HGNC]
DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 7541927 (on Assembly GRCh38)
• Chr6: 7542160 (on Assembly GRCh37)

Preferred name:

NM_004415.4(DSP):c.12C>T (p.Asn4=)

HGVS:

• NC_000006.12:g.7541927C>T
• NG_008803.1:g.5291C>T
• NM_001008844.3:c.12C>T
• NM_001319034.2:c.12C>T
• NM_004415.4:c.12C>TMANE SELECT
• NP_001008844.1:p.Asn4=
• NP_001305963.1:p.Asn4=
• NP_004406.2:p.Asn4=
• LRG_423t1:c.12C>T
• LRG_423:g.5291C>T
• NC_000006.11:g.7542160C>T
• NM_004415.2:c.12C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368802003

NCBI 1000 Genomes Browser:

rs368802003

Molecular consequence:

• NM_001008844.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319034.2:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004415.4:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]