Variant #0000621402 (NC_000004.11:g.5733317G>A, EVC(NM_153717.2):c.550G>A)

Chromosome 4
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.5733317G>A
DNA change (hg38) g.5731590G>A
Published as EVC(NM_153717.2):c.550G>A (p.D184N, p.(Asp184Asn)), EVC(NM_153717.3):c.550G>A (p.D184N)
ISCN -
DB-ID EVC_000041 See all 4 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) 0.00221 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EVC NM_153717.2 -?/. - c.550G>A r.(?) p.(Asp184Asn)