Variant #0000864343 (NC_000016.9:g.1652546G>A, NM_014714.3:c.194C>T (IFT140))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.1652546G>A
DNA change (hg38) -
Published as IFT140(NM_014714.3):c.194C>T (p.A65V), IFT140(NM_014714.4):c.194C>T (p.(Ala65Val))
ISCN -
DB-ID IFT140_000276 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFT140 NM_014714.3 -?/. - c.194C>T r.(?) p.(Ala65Val)
TELO2 NM_016111.3 -?/. - c.*92609G>A r.(=) p.(=)
TMEM204 NM_024600.5 -?/. - c.*47519G>A r.(=) p.(=)


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