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NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) AND not provided

Germline classification:
Uncertain significance (2 submissions)
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:
RCV001723965.5

Allele description [Variation Report for NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)]

NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)

Gene:
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
HGVS:
  • NC_000009.12:g.404995G>C
  • NG_017007.1:g.195131G>C
  • NM_001190458.2:c.3012G>C
  • NM_001193536.2:c.3108G>C
  • NM_203447.4:c.3312G>CMANE SELECT
  • NP_001177387.1:p.Glu1004Asp
  • NP_001180465.1:p.Glu1036Asp
  • NP_982272.2:p.Glu1104Asp
  • NP_982272.2:p.Glu1104Asp
  • LRG_196t1:c.3312G>C
  • LRG_196:g.195131G>C
  • LRG_196p1:p.Glu1104Asp
  • NC_000009.11:g.404995G>C
  • NM_203447.3:c.3312G>C
Protein change:
E1004D
Links:
dbSNP: rs138810908
NCBI 1000 Genomes Browser:
rs138810908
Molecular consequence:
  • NM_001190458.2:c.3012G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193536.2:c.3108G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203447.4:c.3312G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001951929Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001966086Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001951929.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966086.1

#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: Jun 29, 2024