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NM_004415.4(DSP):c.7097G>A (p.Arg2366His)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 19, 2012)
Last evaluated:
Jul 1, 2011
Accession:
VCV000029672.1
Variation ID:
29672
Description:
single nucleotide variant
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NM_004415.4(DSP):c.7097G>A (p.Arg2366His)

Allele ID
38627
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7584359 (GRCh38) GRCh38 UCSC
6: 7584592 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7584592G>A
NC_000006.12:g.7584359G>A
NM_001008844.3:c.5300G>A NP_001008844.1:p.Arg1767His missense
... more HGVS
Protein change
R2366H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA007120
OMIM: 125647.0013
dbSNP: rs387906618
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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 Jul 1, 2011 RCV000022523.30
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1369 1405

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 01, 2011)
no assertion criteria provided
Method: literature only
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
Allele origin: germline
OMIM
Accession: SCV000043812.4
Submitted: (Mar 19, 2012)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Al-Owain M Clinical genetics 2011 PMID: 20738328

Record last updated Nov 01, 2019