Variant #0000726210 (NC_000017.10:g.17697344C>T, NM_030665.3:c.1082C>T (RAI1))

Chromosome 17
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.17697344C>T
DNA change (hg38) -
Published as RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L)
ISCN -
DB-ID RAI1_000100 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) 2.0E-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 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SREBF1 NM_004176.4 -?/. - c.*18592G>A r.(=) p.(=)
RAI1 NM_030665.3 -?/. - c.1082C>T r.(?) p.(Ser361Leu)


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