NM_001040716.2(PC):c.2224-9T>G AND not provided

Clinical significance:Benign (Last evaluated: Feb 19, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000676960.1

Allele description [Variation Report for NM_001040716.2(PC):c.2224-9T>G]

NM_001040716.2(PC):c.2224-9T>G

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001040716.2(PC):c.2224-9T>G
HGVS:
  • NC_000011.10:g.66850932A>C
  • NG_008319.1:g.112445T>G
  • NM_000920.4:c.2224-9T>G
  • NM_001040716.2:c.2224-9T>GMANE SELECT
  • NM_022172.3:c.2224-9T>G
  • NC_000011.9:g.66618403A>C
  • NM_000920.3:c.2224-9T>G
Links:
dbSNP: rs45560936
NCBI 1000 Genomes Browser:
rs45560936
Molecular consequence:
  • NM_000920.4:c.2224-9T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040716.2:c.2224-9T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022172.3:c.2224-9T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802786Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Feb 19, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

Support Center