Variant #0000561245 (NC_000017.10:g.37822757C>A, TCAP(NM_003673.3):c.*395C>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37822757C>A
DNA change (hg38) g.39666504C>A
Published as -
ISCN -
DB-ID PGAP3_000024
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STARD3 NM_001165937.1 -/. - c.*3596C>A r.(=) p.(=)
TCAP NM_003673.3 -/. - c.*395C>A r.(=) p.(=)
PGAP3 NM_033419.3 -/. - c.*6299G>T r.(=) p.(=)