NM_130797.4(DPP6):c.358+30C>T AND not provided – ClinVar

NM_130797.4(DPP6):c.358+30C>T AND not provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001707448.1

Allele description [Variation Report for NM_130797.4(DPP6):c.358+30C>T]

NM_130797.4(DPP6):c.358+30C>T

Gene:
DPP6:dipeptidyl peptidase like 6 [GeneOMIMHGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.2
Genomic location:
Preferred name:
NM_130797.4(DPP6):c.358+30C>T
HGVS:
  • NC_000007.14:g.154446358C>T
  • NG_033878.2:g.703373C>T
  • NM_001039350.3:c.166+30C>T
  • NM_001290252.2:c.172+30C>T
  • NM_001290253.2:c.358+30C>T
  • NM_001364497.2:c.175+30C>T
  • NM_001364498.2:c.175+30C>T
  • NM_001364499.2:c.175+30C>T
  • NM_001364500.2:c.175+30C>T
  • NM_001364501.2:c.166+30C>T
  • NM_001364502.2:c.172+30C>T
  • NM_001936.5:c.172+30C>T
  • NM_130797.4:c.358+30C>TMANE SELECT
  • NC_000007.13:g.154143443C>T

This HGVS expression did
not pass validation

Molecular consequence:
  • NM_001039350.3:c.166+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001290252.2:c.172+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001290253.2:c.358+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364497.2:c.175+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364498.2:c.175+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364499.2:c.175+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364500.2:c.175+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364501.2:c.166+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001364502.2:c.172+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_001936.5:c.172+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

  • NM_130797.4:c.358+30C>T – intron variant
    – [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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