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NM_203447.3(DOCK8):c.1126-395_2971-2751del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 19, 2009
Accession:
VCV000000950.1
Variation ID:
950
Description:
60.2kb deletion
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NM_203447.3(DOCK8):c.1126-395_2971-2751del

Allele ID
15989
Variant type
Deletion
Variant length
60,205 bp
Cytogenetic location
9p24.3
Genomic location
9: 333830-394034 (GRCh38) GRCh38 UCSC
9: 333830-394034 (GRCh37) GRCh37 UCSC
9: 323830-384034 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.10:g.323830_384034del
NC_000009.11:g.333830_394034del
NC_000009.12:g.333830_394034del
... more HGVS
Protein change
-
Other names
EX10-23, DEL
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nsv469504
OMIM: 611432.0002
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 19, 2009 RCV000001000.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DOCK8 - - GRCh38
GRCh37
337 613

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 19, 2009)
no assertion criteria provided
Method: literature only
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000021150.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Combined immunodeficiency associated with DOCK8 mutations. Zhang Q The New England journal of medicine 2009 PMID: 19776401

Record last updated Jun 20, 2019