U.S. flag

An official website of the United States government

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) AND Hereditary spastic paraplegia 31

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 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:
RCV000681482.4

Allele description [Variation Report for NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)]

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Gene:
REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)
Other names:
*175W; *202W; *209W
HGVS:
  • NC_000002.12:g.86217101T>C
  • NG_013037.1:g.125983A>G
  • NM_001164730.2:c.626A>G
  • NM_001164731.2:c.524A>G
  • NM_001164732.2:c.370A>G
  • NM_001371279.1:c.793A>GMANE SELECT
  • NM_001371280.1:c.427A>G
  • NM_022912.3:c.605A>G
  • NP_001158202.1:p.Ter209Trp
  • NP_001158203.1:p.Ter175Trp
  • NP_001158204.1:p.Arg124Gly
  • NP_001358208.1:p.Arg265Gly
  • NP_001358209.1:p.Arg143Gly
  • NP_075063.1:p.Ter202Trp
  • NP_075063.1:p.Ter202Trp
  • LRG_713t2:c.605A>G
  • LRG_713:g.125983A>G
  • LRG_713p2:p.Ter202Trp
  • NC_000002.11:g.86444224T>C
  • NM_001164731.1:c.524A>G
  • NM_022912.2:c.605A>G
Protein change:
R124G
Links:
dbSNP: rs587781248
NCBI 1000 Genomes Browser:
rs587781248
Molecular consequence:
  • NM_001164732.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371279.1:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371280.1:c.427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164730.2:c.626A>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001164731.2:c.524A>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_022912.3:c.605A>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Hereditary spastic paraplegia 31
Synonyms:
Spastic paraplegia 31, autosomal dominant
Identifiers:
MONDO: MONDO:0012453; MedGen: C1853247; Orphanet: 101011; OMIM: 610250

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
SCV000808932Hehr Laboratory, Center for Human Genetics Regensburg
no assertion criteria provided
Pathogenic
(Dec 19, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Hehr Laboratory, Center for Human Genetics Regensburg, SCV000808932.1

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

Last Updated: Aug 26, 2023