Genomic variant #0000571915

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37158985G>A
DNA change (hg38) g.36762941G>A
Published as IFT27(NM_001177701.2):c.425C>T (p.A142V)
ISCN -
DB-ID IFT27_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00976 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFT27 NM_006860.4 -/. - c.422C>T r.(?) p.(Ala141Val)