U.S. flag

An official website of the United States government

NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2016
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:
RCV000488192.21

Allele description

NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs)

Gene:
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs)
HGVS:
  • NC_000004.12:g.6302003_6302006del
  • NG_011700.1:g.37154_37157del
  • NM_001145853.1:c.2208_2211del
  • NM_006005.3:c.2208_2211delMANE SELECT
  • NP_001139325.1:p.Glu737fs
  • NP_005996.2:p.Glu737fs
  • LRG_1417t1:c.2208_2211del
  • LRG_1417:g.37154_37157del
  • LRG_1417p1:p.Glu737fs
  • NC_000004.11:g.6303730_6303733del
Protein change:
E737fs
Links:
dbSNP: rs1064797306
NCBI 1000 Genomes Browser:
rs1064797306
Molecular consequence:
  • NM_001145853.1:c.2208_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006005.3:c.2208_2211del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000575399CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Nov 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000575399.30

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

Last Updated: Aug 4, 2024