Variant #0000618691 (NC_000023.10:g.100650727C>A, NM_000061.2:c.-9708G>T (BTK))

Chromosome X
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.100650727C>A
DNA change (hg38) g.101395739C>A
Published as RPL36A(NM_021029.5):c.420C>A (p.I140=)
ISCN -
DB-ID BTK_000969
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) 3.0E-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 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-07-20 18:02:46 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 -?/. - c.-9708G>T r.(?) p.(=) - - - - - - - -
GLA NM_000169.2 -?/. - c.*2070G>T r.(=) p.(=) - - - - - - - -
RPL36A-HNRNPH2 NM_001199973.1 -?/. - c.408+282C>A r.(=) p.(=) - - - - - - - -
HNRNPH2 NM_019597.4 -?/. - c.-12634C>A r.(?) p.(=) - - - - - - - -
RPL36A NM_021029.5 -?/. - c.420C>A r.(?) p.(Ile140=) - - - - - - - -


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.