chr2:240788118:G>A Detail (hg38) (KIF1A)

Information

Genome

Assembly Position
hg19 chr2:241,727,535-241,727,535 View the variant detail on this assembly version.
hg38 chr2:240,788,118-240,788,118

HGVS

Type Transcript Protein
RefSeq NM_004321.6:c.296C>T NP_004312.2:p.Thr99Met
NM_001244008.1:c.296C>T NP_001230937.1:p.Thr99Met
NM_001320705.1:c.296C>T NP_001307634.1:p.Thr99Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601255 OMIM
HGNC 888 HGNC
Ensembl ENSG00000130294 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-28 criteria provided, multiple submitters, no conflicts Intellectual disability, autosomal dominant 9 de novo germline Detail
Pathogenic 2015-08-06 criteria provided, single submitter PEHO syndrome de novo Detail
Pathogenic 2022-12-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-18 criteria provided, single submitter Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30 germline Detail
Pathogenic 2024-01-18 criteria provided, single submitter Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30 germline Detail
Pathogenic 2024-01-18 criteria provided, single submitter Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30 germline Detail
Pathogenic 2024-03-02 criteria provided, single submitter KIF1A-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Muscle Spasticity A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patien... BeFree 25253658 Detail
<0.001 Muscle hypotonia A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patien... BeFree 25253658 Detail
<0.001 intellectual disability A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patien... BeFree 25253658 Detail
0.240 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND Intellectual disability, autosomal dominant 9 ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND PEHO syndrome ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND not provided ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) AND KIF1A-related disorder ClinVar Detail
A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual ... DisGeNET Detail
A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual ... DisGeNET Detail
A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual ... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs387906799 dbSNP
Genome
hg38
Position
chr2:240,788,118-240,788,118
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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