Variant #0000522055 (NC_000004.11:g.178257452A>G, NEIL3(NM_018248.2):c.604A>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.178257452A>G
DNA change (hg38) g.177336298A>G
Published as NEIL3(NM_018248.3):c.604A>G (p.S202G)
ISCN -
DB-ID NEIL3_000001
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) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NEIL3 NM_018248.2 ?/. - c.604A>G r.(?) p.(Ser202Gly)