U.S. flag

An official website of the United States government

NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) AND Ehlers-Danlos syndrome, periodontal type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000755120.2

Allele description [Variation Report for NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)]

NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)

Gene:
C1R:complement C1r [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Chr12: 7086383 (on Assembly GRCh38)
Preferred name:
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
HGVS:
  • NC_000012.12:g.7086383G>C
  • NG_062465.1:g.11225C>G
  • NM_001354346.2:c.1155C>G
  • NM_001733.7:c.1113C>GMANE SELECT
  • NP_001341275.1:p.Cys385Trp
  • NP_001724.4:p.Cys371Trp
  • LRG_1321t1:c.1113C>G
  • LRG_1321:g.11225C>G
  • LRG_1321p1:p.Cys371Trp
  • NM_001733.4:c.1113C>G
  • NM_001733.6:c.1113C>G
Protein change:
C371W
Links:
dbSNP: rs1057519579
Molecular consequence:
  • NM_001354346.2:c.1155C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001733.7:c.1113C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, periodontal type 2
Identifiers:
MONDO: MONDO:0014954; MedGen: C4310681; OMIM: 617174

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882940University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenic
(Oct 13, 2016) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Citations

PubMed

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, et al.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

PubMed [citation]
PMID:
27745832
PMCID:
PMC5097948

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882940.1

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

Last Updated: Nov 11, 2023