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NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys) AND Developmental and epileptic encephalopathy, 25

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001712895.1

Allele description [Variation Report for NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys)]

NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys)

Gene:
SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys)
HGVS:
  • NC_000017.11:g.6703991G>T
  • NG_034220.1:g.14431C>A
  • NM_001143838.3:c.434C>A
  • NM_001284509.2:c.383C>A
  • NM_001284510.2:c.305C>A
  • NM_177550.5:c.434C>AMANE SELECT
  • NP_001137310.1:p.Thr145Lys
  • NP_001271438.1:p.Thr128Lys
  • NP_001271439.1:p.Thr102Lys
  • NP_808218.1:p.Thr145Lys
  • LRG_1020:g.14431C>A
  • NC_000017.10:g.6607310G>T
Protein change:
T102K
Links:
dbSNP: rs1202091819
NCBI 1000 Genomes Browser:
rs1202091819
Molecular consequence:
  • NM_001143838.3:c.434C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284509.2:c.383C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284510.2:c.305C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177550.5:c.434C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 25 (DEE25)
Synonyms:
Epileptic encephalopathy, early infantile, 25; Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
Identifiers:
MONDO: MONDO:0014392; MedGen: C4014621; Orphanet: 442835; OMIM: 615905

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548197Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV001548197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023