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NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys) AND Sarcoidosis, early-onset

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000084076.1

Allele description

NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys)

Gene:
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys)
HGVS:
  • NC_000016.10:g.50711058G>A
  • NG_007508.1:g.18920G>A
  • NM_001293557.2:c.1066G>A
  • NM_001370466.1:c.1066G>A
  • NM_022162.3:c.1147G>A
  • NP_001280486.1:p.Glu356Lys
  • NP_001357395.1:p.Glu356Lys
  • NP_071445.1:p.Glu383Lys
  • LRG_177t1:c.1147G>A
  • LRG_177:g.18920G>A
  • LRG_177p1:p.Glu383Lys
  • NC_000016.9:g.50744969G>A
  • NM_022162.1:c.1147G>A
  • NM_022162.2:c.1147G>A
  • NR_163434.1:n.1131G>A
  • Q9HC29:p.Glu383Lys
Protein change:
E356K; GLU383LYS
Links:
UniProtKB: Q9HC29#VAR_023823; OMIM: 605956.0011; dbSNP: rs104895477
NCBI 1000 Genomes Browser:
rs104895477
Molecular consequence:
  • NM_001293557.2:c.1066G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.1066G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.1131G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Sarcoidosis, early-onset (EOS)
Identifiers:
MedGen: C1836122; OMIM: 609464

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116205Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providednot providednot provided

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

Description

also involved in OMIM 186580 and 266600

SCV000116205

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

A new CARD15 mutation in Blau syndrome.

van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M.

Eur J Hum Genet. 2005 Jun;13(6):742-7.

PubMed [citation]
PMID:
15812565

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116205.1

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

Last Updated: Nov 2, 2019