NM_022041.4(GAN):c.141C>G (p.Ile47Met) AND Muscular hypotonia

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001260517.1

Allele description [Variation Report for NM_022041.4(GAN):c.141C>G (p.Ile47Met)]

NM_022041.4(GAN):c.141C>G (p.Ile47Met)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.141C>G (p.Ile47Met)
HGVS:
  • NC_000016.10:g.81315254C>G
  • NG_009007.1:g.5289C>G
  • NM_001377486.1:c.-384C>G
  • NM_022041.4:c.141C>GMANE SELECT
  • NP_071324.1:p.Ile47Met
  • LRG_242:g.5289C>G
  • NC_000016.9:g.81348859C>G
Protein change:
I47M
Molecular consequence:
  • NM_001377486.1:c.-384C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.141C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscular hypotonia
Synonyms:
Muscle hypotonia
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001437538Institute of Human Genetics,University of Wuerzburgno assertion criteria providedLikely pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,University of Wuerzburg, SCV001437538.1

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

Last Updated: Oct 10, 2020

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