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NM_004750.5(CRLF1):c.985dup (p.Glu329fs) AND Cold-induced sweating syndrome 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001007859.1

Allele description [Variation Report for NM_004750.5(CRLF1):c.985dup (p.Glu329fs)]

NM_004750.5(CRLF1):c.985dup (p.Glu329fs)

Gene:
CRLF1:cytokine receptor like factor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_004750.5(CRLF1):c.985dup (p.Glu329fs)
HGVS:
  • NC_000019.10:g.18596661dup
  • NG_013370.1:g.15190dup
  • NG_057411.1:g.43dup
  • NM_004750.5:c.985dupMANE SELECT
  • NP_004741.1:p.Glu329fs
  • NC_000019.9:g.18707471dup
  • NM_004750.1:c.985dup
Protein change:
E329fs
Links:
dbSNP: rs1600650861
NCBI 1000 Genomes Browser:
rs1600650861
Molecular consequence:
  • NM_004750.5:c.985dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cold-induced sweating syndrome 1 (CISS1)
Synonyms:
Crisponi syndrome; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
Identifiers:
MONDO: MONDO:0010091; MedGen: C1848947; Orphanet: 1545; Orphanet: 157820; OMIM: 272430

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167557Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicinheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providedyesresearch

Citations

PubMed

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, et al.

J Clin Invest. 2016 Feb;126(2):762-78. doi: 10.1172/JCI84457. Epub 2016 Jan 11.

PubMed [citation]
PMID:
26752647
PMCID:
PMC4731160

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Aug 5, 2023