U.S. flag

An official website of the United States government

NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys) AND Progressive congenital scoliosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001263408.1

Allele description [Variation Report for NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)]

NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)

Gene:
CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)
HGVS:
  • NC_000002.12:g.232541462C>T
  • NG_012954.2:g.6771C>T
  • NM_005199.5:c.439C>TMANE SELECT
  • NP_005190.4:p.Arg147Cys
  • LRG_1275t1:c.439C>T
  • LRG_1275:g.6771C>T
  • LRG_1275p1:p.Arg147Cys
  • NC_000002.11:g.233406172C>T
  • NG_012954.1:g.6736C>T
  • NM_005199.4:c.439C>T
Protein change:
R147C
Links:
dbSNP: rs754928609
NCBI 1000 Genomes Browser:
rs754928609
Molecular consequence:
  • NM_005199.5:c.439C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Progressive congenital scoliosis
Identifiers:
MedGen: C1857025; Human Phenotype Ontology: HP:0008458

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
SCV001441452New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 31, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024