chr2:240775863:G>A Detail (hg38) (KIF1A)

Information

Genome

Assembly Position
hg19 chr2:241,715,280-241,715,280 View the variant detail on this assembly version.
hg38 chr2:240,775,863-240,775,863

HGVS

Type Transcript Protein
RefSeq NM_004321.6:c.946C>T NP_004312.2:p.Arg316Trp
NM_001244008.1:c.946C>T NP_001230937.1:p.Arg316Trp
NM_001320705.1:c.946C>T NP_001307634.1:p.Arg316Trp
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic Intellectual disability, spastic paraparesis and cerebellar atrophy germline MGS000009
(TMGS000012) 		Shoji Tsuji Tokyo University
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-20 criteria provided, multiple submitters, no conflicts Intellectual disability, autosomal dominant 9 de novo germline Detail
Pathogenic 2022-01-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-02-02 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-08-10 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 30,Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C germline Detail
Pathogenic 2022-08-10 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 30,Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C germline Detail
Pathogenic 2022-08-10 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 30,Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C germline Detail
Pathogenic 2019-03-30 criteria provided, single submitter Neuropathy, hereditary sensory and autonomic, type 2A unknown Detail
Pathogenic 2018-02-16 criteria provided, single submitter hereditary spastic paraplegia 30 de novo Detail
Likely pathogenic 2016-12-12 criteria provided, single submitter hereditary spastic paraplegia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND Intellectual disability, autosomal dominant 9 ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND not provided ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND Inborn genetic diseases ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND multiple conditions ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND Neuropathy, hereditary sensory and autonomic, type ... ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND Hereditary spastic paraplegia 30 ClinVar Detail
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) AND Hereditary spastic paraplegia ClinVar 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
rs672601370 dbSNP
Genome
hg38
Position
chr2:240,775,863-240,775,863
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser