Variant #0000564716 (NC_000018.9:g.32431776T>C, DTNA(NM_001390.4):c.1354-19T>C)

Chromosome 18
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.32431776T>C
DNA change (hg38) g.34851812T>C
Published as DTNA(NM_001198939.2):c.1174-19T>C
ISCN -
DB-ID DTNA_000032 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) 0.0007 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DTNA NM_001390.4 -/. - c.1354-19T>C r.(=) p.(=)