Variant #0000804353 (NC_000010.10:g.135111452G>A, NC_000010.10(NM_001256617.1):c.616+4C>T (TUBGCP2))

Chromosome 10
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.135111452G>A
DNA change (hg38) -
Published as TUBGCP2(NM_001256617.1):c.616+4C>T, TUBGCP2(NM_006659.4):c.616+4C>T
ISCN -
DB-ID TUBGCP2_000015 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) 0.00077 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 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TUBGCP2 NM_001256617.1 -?/. - c.616+4C>T r.spl? p.?
ZNF511 NM_145806.2 -?/. - c.-10996G>A r.(?) p.(=)


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