U.S. flag

An official website of the United States government

NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) AND developmental delay with seizures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000678853.2

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)]

NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)

Gene:
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
Other names:
p.P282R:CCT>CGT
HGVS:
  • NC_000016.10:g.2496993C>G
  • NG_028170.1:g.26848C>G
  • NM_001199107.2:c.845C>GMANE SELECT
  • NM_020705.3:c.845C>G
  • NP_001186036.1:p.Pro282Arg
  • NP_065756.1:p.Pro282Arg
  • NC_000016.9:g.2546994C>G
  • NM_001199107.1:c.845C>G
  • NM_020705.2:c.845C>G
  • p.Pro282Arg
Protein change:
P282R
Links:
dbSNP: rs747538224
NCBI 1000 Genomes Browser:
rs747538224
Molecular consequence:
  • NM_001199107.2:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
developmental delay with seizures
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000805044Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Uncertain significance
(Aug 15, 2016) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805044.1

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

Last Updated: Sep 29, 2024