NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) AND Inborn genetic diseases – ClinVar

NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) AND Inborn genetic diseases

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV002542603.1

Allele description [Variation Report for NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)]

NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)

Gene:
SAMD9:sterile alpha motif domain containing 9 [GeneOMIMHGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)
HGVS:
  • NC_000007.14:g.93102400G>A
  • NG_023419.1:g.20624C>T
  • NM_001193307.2:c.3698C>T
  • NM_017654.4:c.3698C>TMANE SELECT
  • NP_001180236.1:p.Ser1233Leu
  • NP_060124.2:p.Ser1233Leu
  • NC_000007.13:g.92731713G>A
  • NM_017654.3:c.3698C>T

This HGVS expression did
not pass validation

Protein change:
S1233L
Molecular consequence:
  • NM_001193307.2:c.3698C>T – missense variant
    – [Sequence Ontology: SO:0001583]

  • NM_017654.4:c.3698C>T – missense variant
    – [Sequence Ontology: SO:0001583]

Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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