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NM_020812.4(DOCK6):c.3894+19G>A AND not specified

Germline classification:
Benign (1 submission)
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:
RCV001701072.2

Allele description [Variation Report for NM_020812.4(DOCK6):c.3894+19G>A]

NM_020812.4(DOCK6):c.3894+19G>A

Genes:
DOCK6-AS1:DOCK6 antisense RNA 1 [Gene - HGNC]
DOCK6:dedicator of cytokinesis 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_020812.4(DOCK6):c.3894+19G>A
HGVS:
  • NC_000019.10:g.11216895C>T
  • NG_031953.1:g.50598G>A
  • NM_001367830.1:c.3999+19G>A
  • NM_020812.4:c.3894+19G>AMANE SELECT
  • NC_000019.9:g.11327571C>T
  • NM_020812.3:c.3894+19G>A
Links:
dbSNP: rs4804150
NCBI 1000 Genomes Browser:
rs4804150
Molecular consequence:
  • NM_001367830.1:c.3999+19G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020812.4:c.3894+19G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001923115Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923115.1

#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