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NM_003183.6(ADAM17):c.603_606del (p.Asp201fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 2, 2012)
Last evaluated:
Oct 20, 2011
Accession:
VCV000030374.1
Variation ID:
30374
Description:
4bp deletion
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NM_003183.6(ADAM17):c.603_606del (p.Asp201fs)

Allele ID
39331
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
2p25.1
Genomic location
2: 9527799-9527802 (GRCh38) GRCh38 UCSC
2: 9667928-9667931 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.9667931_9667934del
NC_000002.12:g.9527802_9527805del
LRG_1203t1:c.603_606del LRG_1203p1:p.Asp201fs
... more HGVS
Protein change
D201fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 603639.0001
dbSNP: rs387906866
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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 Oct 20, 2011 RCV000023322.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADAM17 - - GRCh38
GRCh37
20 65

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 20, 2011)
no assertion criteria provided
Method: literature only
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 (1 family)
Allele origin: germline
OMIM
Accession: SCV000044613.4
Submitted: (Feb 02, 2012)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Inflammatory skin and bowel disease linked to ADAM17 deletion. Blaydon DC The New England journal of medicine 2011 PMID: 22010916

Record last updated Aug 25, 2019