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NM_001101426.4(CRPPA):c.790-14T>C AND not provided

Germline classification:
Likely benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001702777.2

Allele description [Variation Report for NM_001101426.4(CRPPA):c.790-14T>C]

NM_001101426.4(CRPPA):c.790-14T>C

Gene:
CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p21.2
Genomic location:
Preferred name:
NM_001101426.4(CRPPA):c.790-14T>C
HGVS:
  • NC_000007.14:g.16301480A>G
  • NG_032690.2:g.124843T>C
  • NM_001101417.4:c.640-14T>C
  • NM_001101426.4:c.790-14T>CMANE SELECT
  • NM_001368197.1:c.685-14T>C
  • NC_000007.13:g.16341105A>G
  • NG_032690.1:g.124843T>C
  • NM_001101426.3:c.790-14T>C
Links:
dbSNP: rs142414812
NCBI 1000 Genomes Browser:
rs142414812
Molecular consequence:
  • NM_001101417.4:c.640-14T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001101426.4:c.790-14T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368197.1:c.685-14T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001930392Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV002035626Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930392.1

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002035626.1

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

Last Updated: Mar 5, 2024