NM_001875.4(CPS1):c.295C>A (p.Pro99Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000732850.1

Allele description [Variation Report for NM_001875.4(CPS1):c.295C>A (p.Pro99Thr)]

NM_001875.4(CPS1):c.295C>A (p.Pro99Thr)

Gene:
CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001875.4(CPS1):c.295C>A (p.Pro99Thr)
HGVS:
  • NC_000002.12:g.210576404C>A
  • NG_008285.1:g.103720C>A
  • NM_001875.4:c.295C>A
  • NP_001866.2:p.Pro99Thr
  • LRG_336t1:c.295C>A
  • LRG_336:g.103720C>A
  • LRG_336p1:p.Pro99Thr
  • NC_000002.11:g.211441128C>A
Protein change:
P99T
Links:
dbSNP: rs140999077
NCBI 1000 Genomes Browser:
rs140999077
Molecular consequence:
  • NM_001875.4:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000860845EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 9, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000860845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center