NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) AND Charcot-Marie-Tooth disease, type I

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2019)

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:
RCV000856964.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)]

NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
HGVS:
  • NC_000011.10:g.68914845A>G
  • NG_007976.1:g.15995A>G
  • NM_002180.2:c.734A>G
  • NM_002180.3:c.734A>GMANE SELECT
  • NP_002171.2:p.Asn245Ser
  • NP_002171.2:p.Asn245Ser
  • LRG_250t1:c.734A>G
  • LRG_250:g.15995A>G
  • LRG_250p1:p.Asn245Ser
  • NC_000011.9:g.68682313A>G
Protein change:
N245S
Links:
dbSNP: rs1555243999
NCBI 1000 Genomes Browser:
rs1555243999
Molecular consequence:
  • NM_002180.2:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:
Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
Identifiers:
MONDO: MONDO:0019011; MedGen: C0751036

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999529Genesis Genome Databaseno assertion criteria providedUncertain significance
(Aug 14, 2019)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genesis Genome Database, SCV000999529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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