NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761652.8

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)]

NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
Other names:
p.P479P:CCC>CCT
HGVS:
  • NC_000001.11:g.42927083G>A
  • NG_008232.1:g.37094C>T
  • NM_006516.4:c.1437C>TMANE SELECT
  • NP_006507.2:p.Pro479=
  • LRG_1132:g.37094C>T
  • NC_000001.10:g.43392754G>A
  • NM_006516.2:c.1437C>T
  • p.Pro479Pro
Links:
dbSNP: rs146879902
NCBI 1000 Genomes Browser:
rs146879902
Molecular consequence:
  • NM_006516.4:c.1437C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
7

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000891823CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes7not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000891823.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Nov 27, 2021

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