NM_006907.3(PYCR1):c.616G>A (p.Gly206Arg) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059738.1

Allele description

NM_006907.3(PYCR1):c.616G>A (p.Gly206Arg)

Gene:
PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_006907.3(PYCR1):c.616G>A (p.Gly206Arg)
HGVS:
  • NC_000017.11:g.81934670C>T
  • NG_023032.1:g.7423G>A
  • NM_001282279.1:c.541-181G>A
  • NM_006907.3:c.616G>A
  • NP_008838.2:p.Gly206Arg
  • NC_000017.10:g.79892546C>T
  • NM_006907.2:c.616G>A
  • P32322:p.Gly206Arg
Protein change:
G206R
Links:
UniProtKB: P32322#VAR_059072; UniProtKB/Swiss-Prot: VAR_059072; dbSNP: rs121918375
NCBI 1000 Genomes Browser:
rs121918375
Allele Frequency:
0.00004(T)
Molecular consequence:
  • NM_001282279.1:c.541-181G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006907.3:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000091308UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, et al.

Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.

PubMed [citation]
PMID:
19648921

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091308.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2017