U.S. flag

An official website of the United States government

NM_015915.5(ATL1):c.1237T>G (p.Phe413Val) AND Hereditary spastic paraplegia 3A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 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:
RCV003312914.1

Allele description [Variation Report for NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)]

NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)

Gene:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)
HGVS:
  • NC_000014.9:g.50628148T>G
  • NG_009028.1:g.100067T>G
  • NM_001127713.1:c.1237T>G
  • NM_015915.5:c.1237T>GMANE SELECT
  • NM_181598.4:c.1237T>G
  • NP_001121185.1:p.Phe413Val
  • NP_056999.2:p.Phe413Val
  • NP_056999.2:p.Phe413Val
  • NP_853629.2:p.Phe413Val
  • LRG_360t1:c.1237T>G
  • LRG_360t2:c.1237T>G
  • LRG_360:g.100067T>G
  • LRG_360p1:p.Phe413Val
  • LRG_360p2:p.Phe413Val
  • NC_000014.8:g.51094866T>G
  • NM_015915.4:c.1237T>G
Protein change:
F413V
Molecular consequence:
  • NM_001127713.1:c.1237T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015915.5:c.1237T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181598.4:c.1237T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia 3A (SPG3A)
Synonyms:
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; SPG3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008437; MedGen: C2931355; Orphanet: 100984; OMIM: 182600

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
SCV004011937Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N.

Am J Hum Genet. 1997 Jan;60(1):63-71.

PubMed [citation]
PMID:
8981948
PMCID:
PMC1712537

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011937.1

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

Last Updated: Jul 16, 2023