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NM_000431.4(MVK):c.104T>C (p.Leu35Ser)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jun 7, 2010)
Accession:
VCV000097563.1
Variation ID:
97563
Description:
single nucleotide variant
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NM_000431.4(MVK):c.104T>C (p.Leu35Ser)

Allele ID
103455
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109576023 (GRCh38) GRCh38 UCSC
12: 110013828 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110013828T>C
NC_000012.12:g.109576023T>C
NM_000431.4:c.104T>C MANE Select NP_000422.1:p.Leu35Ser missense
... more HGVS
Protein change
L35S
Other names
-
Canonical SPDI
NC_000012.12:109576022:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA149771
dbSNP: rs104895313
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000083815.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MVK - - GRCh38
GRCh37
333 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
Hyperimmunoglobulin D with periodic fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115917.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Overt and occult rheumatic diseases: the child with chronic fever. Frenkel J Best practice & research. Clinical rheumatology 2002 PMID: 12387810

Text-mined citations for rs104895313...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020