Variant #0000560361 (NC_000017.10:g.15929920A>C, TTC19(NM_017775.3):c.898A>C)

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.15929920A>C
DNA change (hg38) g.16026606A>C
Published as TTC19(NM_001271420.1):c.577A>C (p.I193L)
ISCN -
DB-ID NCOR1_000004
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) 0.00042 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.-27012T>G r.(?) p.(=)
NCOR1 NM_006311.3 -?/. - c.*5690T>G r.(=) p.(=)
TTC19 NM_017775.3 -?/. - c.898A>C r.(?) p.(Ile300Leu)