Variant #0000673887 (NC_000002.11:g.241725753T>C, NM_004321.6:c.607A>G (KIF1A))

Individual ID 00306153
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.241725753T>C
DNA change (hg38) g.240786336T>C
Published as g.33973A>G
ISCN -
DB-ID KIF1A_000244
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Varvara Kadnikova
Database submission license No license selected
Created by Varvara Kadnikova
Date created 2020-07-09 15:30:51 +02:00 (CEST)
Date last edited 2020-07-14 19:10:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIF1A NM_004321.6 +?/. 6 c.607A>G r.(?) p.(Arg203Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307285 DNA SEQ-NG-IT - - KIF1A 1 Varvara Kadnikova


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