Variant #0000254145 (NC_000017.10:g.15930734A>G, TTC19(NM_017775.3):c.1041A>G)

Chromosome 17
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.15930734A>G
DNA change (hg38) g.16027420A>G
Published as TTC19(NM_001271420.1):c.720A>G (p.Q240=)
ISCN -
DB-ID TTC19_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00224 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZSWIM7 NM_001042697.1 -?/. - c.-27826T>C r.(?) p.(=)
NCOR1 NM_006311.3 -?/. - c.*4876T>C r.(=) p.(=)
TTC19 NM_017775.3 -?/. - c.1041A>G r.(?) p.(Gln347=)