NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) AND Charcot-Marie-Tooth disease, type 4H

Clinical significance:Pathogenic (Last evaluated: Sep 13, 2012)

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:
RCV000031999.2

Allele description [Variation Report for NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)]

NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)
HGVS:
  • NC_000012.12:g.32611270G>A
  • NG_008626.2:g.216742G>A
  • NM_001304481.1:c.1580G>A
  • NM_001304483.2:c.581G>A
  • NM_001304484.2:c.293G>A
  • NM_001330373.2:c.1046G>A
  • NM_001330374.2:c.1046G>A
  • NM_001370297.1:c.773G>A
  • NM_001370298.3:c.1736G>AMANE SELECT
  • NM_001384126.1:c.1736G>A
  • NM_001384127.1:c.1325G>A
  • NM_001384128.1:c.1325G>A
  • NM_001384130.1:c.1046G>A
  • NM_001385118.1:c.1325G>A
  • NM_139241.3:c.1325G>A
  • NP_001291410.1:p.Arg527His
  • NP_001291412.1:p.Arg194His
  • NP_001291413.1:p.Arg98His
  • NP_001317302.1:p.Arg349His
  • NP_001317303.1:p.Arg349His
  • NP_001357226.1:p.Arg258His
  • NP_001357227.2:p.Arg579His
  • NP_001371055.1:p.Arg579His
  • NP_001371056.1:p.Arg442His
  • NP_001371057.1:p.Arg442His
  • NP_001371059.1:p.Arg349His
  • NP_001372047.1:p.Arg442His
  • NP_640334.2:p.Arg442His
  • LRG_240t1:c.1325G>A
  • LRG_240t2:c.1580G>A
  • LRG_240:g.216742G>A
  • LRG_240p1:p.Arg442His
  • LRG_240p2:p.Arg527His
  • NC_000012.11:g.32764204G>A
  • NM_139241.2:c.1325G>A
Protein change:
R194H
Links:
dbSNP: rs281865063
NCBI 1000 Genomes Browser:
rs281865063
Molecular consequence:
  • NM_001304481.1:c.1580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304483.2:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304484.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330373.2:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330374.2:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370297.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.1736G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.1736G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384127.1:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384128.1:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384130.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385118.1:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139241.3:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type 4H (CMT4H)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; Charcot-Marie-Tooth Neuropathy Type 4H
Identifiers:
MONDO: MONDO:0012250; MedGen: C1836336; Orphanet: 99954; OMIM: 609311

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054705GeneReviewsno assertion criteria providedpathologic
(Sep 13, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000054705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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