NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His) AND Short stature

Clinical significance:Likely pathogenic (Last evaluated: Nov 18, 2001)

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:
RCV000736161.1

Allele description [Variation Report for NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)]

NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)

Gene:
MACF1:microtubule actin crosslinking factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.3
Genomic location:
Preferred name:
NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)
HGVS:
  • NC_000001.11:g.39485559G>A
  • NG_050926.1:g.409143G>A
  • NM_001394062.1:c.22433G>AMANE SELECT
  • NM_012090.5:c.16058G>A
  • NM_012090.5:c.16058G>A
  • NP_001380991.1:p.Arg7478His
  • NP_036222.3:p.Arg5353His
  • NP_036222.3:p.Arg5353His
  • NC_000001.10:g.39951231G>A
Protein change:
R5353H
Links:
dbSNP: rs755081350
NCBI 1000 Genomes Browser:
rs755081350
Molecular consequence:
  • NM_001394062.1:c.22433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012090.5:c.16058G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000864458Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergno assertion criteria providedLikely pathogenic
(Nov 18, 2001)
unknowncase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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