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NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 18, 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:
RCV000414911.2

Allele description [Variation Report for NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)]

NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)

Gene:
KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
HGVS:
  • NC_000002.12:g.240788182C>T
  • NG_029724.1:g.37026G>A
  • NM_001244008.2:c.232G>AMANE SELECT
  • NM_001320705.2:c.232G>A
  • NM_001330289.2:c.232G>A
  • NM_001330290.2:c.232G>A
  • NM_001379631.1:c.232G>A
  • NM_001379632.1:c.232G>A
  • NM_001379633.1:c.232G>A
  • NM_001379634.1:c.232G>A
  • NM_001379635.1:c.232G>A
  • NM_001379636.1:c.232G>A
  • NM_001379637.1:c.232G>A
  • NM_001379638.1:c.232G>A
  • NM_001379639.1:c.232G>A
  • NM_001379640.1:c.232G>A
  • NM_001379641.1:c.232G>A
  • NM_001379642.1:c.232G>A
  • NM_001379645.1:c.232G>A
  • NM_001379646.1:c.232G>A
  • NM_001379648.1:c.232G>A
  • NM_001379649.1:c.232G>A
  • NM_001379650.1:c.232G>A
  • NM_001379651.1:c.232G>A
  • NM_001379653.1:c.232G>A
  • NM_004321.8:c.232G>A
  • NP_001230937.1:p.Gly78Ser
  • NP_001230937.1:p.Gly78Ser
  • NP_001307634.1:p.Gly78Ser
  • NP_001317218.1:p.Gly78Ser
  • NP_001317219.1:p.Gly78Ser
  • NP_001366560.1:p.Gly78Ser
  • NP_001366561.1:p.Gly78Ser
  • NP_001366562.1:p.Gly78Ser
  • NP_001366563.1:p.Gly78Ser
  • NP_001366564.1:p.Gly78Ser
  • NP_001366565.1:p.Gly78Ser
  • NP_001366566.1:p.Gly78Ser
  • NP_001366567.1:p.Gly78Ser
  • NP_001366568.1:p.Gly78Ser
  • NP_001366569.1:p.Gly78Ser
  • NP_001366570.1:p.Gly78Ser
  • NP_001366571.1:p.Gly78Ser
  • NP_001366574.1:p.Gly78Ser
  • NP_001366575.1:p.Gly78Ser
  • NP_001366577.1:p.Gly78Ser
  • NP_001366578.1:p.Gly78Ser
  • NP_001366579.1:p.Gly78Ser
  • NP_001366580.1:p.Gly78Ser
  • NP_001366582.1:p.Gly78Ser
  • NP_004312.2:p.Gly78Ser
  • NP_004312.2:p.Gly78Ser
  • LRG_367t1:c.232G>A
  • LRG_367t2:c.232G>A
  • LRG_367:g.37026G>A
  • LRG_367p1:p.Gly78Ser
  • LRG_367p2:p.Gly78Ser
  • NC_000002.11:g.241727599C>T
  • NM_001244008.1:c.232G>A
  • NM_004321.7:c.232G>A
Protein change:
G78S
Links:
dbSNP: rs1057518760
NCBI 1000 Genomes Browser:
rs1057518760
Molecular consequence:
  • NM_001244008.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperreflexia (HRX)
Identifiers:
MONDO: MONDO:0007774; MedGen: C0151889; OMIM: 145290; Human Phenotype Ontology: HP:0001347
Name:
Clonus
Identifiers:
MedGen: C0009024; Human Phenotype Ontology: HP:0002169
Name:
Lower limb hyperreflexia
Identifiers:
MedGen: C1836696; Human Phenotype Ontology: HP:0002395
Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492532Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Likely pathogenic
(Apr 18, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492532.1

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

Last Updated: Sep 29, 2024