NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000480070.2

Allele description [Variation Report for NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)]

NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)

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.312C>G (p.Phe104Leu)
HGVS:
  • NC_000001.11:g.42930830G>C
  • NG_008232.1:g.33347C>G
  • NM_006516.4:c.312C>GMANE SELECT
  • NP_006507.2:p.Phe104Leu
  • LRG_1132:g.33347C>G
  • NC_000001.10:g.43396501G>C
  • NM_006516.2:c.312C>G
Protein change:
F104L
Links:
dbSNP: rs76672402
NCBI 1000 Genomes Browser:
rs76672402
Molecular consequence:
  • NM_006516.4:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000703136EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Nov 21, 2016)
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, SCV000703136.2

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

Last Updated: Nov 27, 2021

Support Center