Variant #0000064487 (NC_000017.10:g.15909924C>A, TTC19(NM_017775.3):c.675+43C>A)

Individual ID 00037292
Chromosome 17
Allele Parent #1
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.15909924C>A
DNA change (hg38) g.16006610C>A
Published as -
ISCN -
DB-ID TTC19_000006
Variant remarks Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs758853
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTC19 NM_017775.3 -/. - c.675+43C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037362 DNA SEQ - - TTC19 1 Andreas Laner