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NM_138381.5(OXNAD1):c.372A>T (p.Arg124Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004135822.1

Allele description [Variation Report for NM_138381.5(OXNAD1):c.372A>T (p.Arg124Ser)]

NM_138381.5(OXNAD1):c.372A>T (p.Arg124Ser)

Gene:
OXNAD1:oxidoreductase NAD binding domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_138381.5(OXNAD1):c.372A>T (p.Arg124Ser)
HGVS:
  • NC_000003.12:g.16294937A>T
  • NM_001330670.3:c.426A>T
  • NM_001330671.3:c.426A>T
  • NM_001352977.2:c.372A>T
  • NM_001352978.2:c.372A>T
  • NM_001352980.2:c.291A>T
  • NM_001352981.2:c.291A>T
  • NM_001352982.2:c.291A>T
  • NM_001352983.2:c.291A>T
  • NM_138381.5:c.372A>TMANE SELECT
  • NP_001317599.1:p.Arg142Ser
  • NP_001317600.1:p.Arg142Ser
  • NP_001339906.1:p.Arg124Ser
  • NP_001339907.1:p.Arg124Ser
  • NP_001339909.1:p.Arg97Ser
  • NP_001339910.1:p.Arg97Ser
  • NP_001339911.1:p.Arg97Ser
  • NP_001339912.1:p.Arg97Ser
  • NP_612390.1:p.Arg124Ser
  • NC_000003.11:g.16336444A>T
  • NM_138381.3:c.372A>T
  • NR_148217.2:n.1001A>T
  • NR_148218.2:n.1001A>T
  • NR_148219.2:n.898A>T
  • NR_148220.2:n.898A>T
...more
Protein change:
R124S
Molecular consequence:
  • NM_001330670.3:c.426A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330671.3:c.426A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352977.2:c.372A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352978.2:c.372A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352980.2:c.291A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352981.2:c.291A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352982.2:c.291A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352983.2:c.291A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138381.5:c.372A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148217.2:n.1001A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148218.2:n.1001A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148219.2:n.898A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148220.2:n.898A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003610483Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 29, 2022)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024

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