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NM_020639.2(RIPK4):c.1074dup (p.Glu359Terfs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 12, 2018)
Last evaluated:
Oct 12, 2018
Accession:
VCV000585265.1
Variation ID:
585265
Description:
1bp duplication
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NM_020639.2(RIPK4):c.1074dup (p.Glu359Terfs)

Allele ID
576315
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 41744003 (GRCh38) GRCh38 UCSC
21: 43164163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.43164163dup
NC_000021.9:g.41744003dup
NM_020639.2:c.1074dup NP_065690.2:p.Glu359Terfs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605706.0007
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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 12, 2018 RCV000710016.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RIPK4 - - GRCh38
GRCh37
73 142

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 12, 2018)
no assertion criteria provided
Method: literature only
BARTSOCAS-PAPAS SYNDROME
Allele origin: germline
OMIM
Accession: SCV000840381.1
Submitted: (Oct 12, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. Busa T American journal of medical genetics. Part A 2017 PMID: 28940926

Record last updated Jun 17, 2019