Variant #0000571575 (NC_000022.10:g.24717637C>T, NR_103546.1:n.997C>T (SPECC1L-ADORA2A))

Chromosome 22
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.24717637C>T
DNA change (hg38) g.24321669C>T
Published as SPECC1L(NM_001145468.2):c.689C>T (p.(Thr230Ile))
ISCN -
DB-ID SPECC1L-ADORA2A_000004
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) 0.00216 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPECC1L NM_015330.3 -?/. - c.689C>T r.(?) p.(Thr230Ile)
SPECC1L-ADORA2A NR_103546.1 -?/. - n.997C>T r.(?) -


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