Variant #0000515094 (NC_000002.11:g.233399868G>A, CHRND(NM_000751.2):c.1400G>A)

Chromosome 2
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.233399868G>A
DNA change (hg38) g.232535158G>A
Published as CHRND(NM_000751.2):c.1400G>A (p.(Arg467His))
ISCN -
DB-ID CHRND_000050 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) 0.00112 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRND NM_000751.2 -?/. - c.1400G>A r.(?) p.(Arg467His)
CHRNG NM_005199.4 -?/. - c.-4590G>A r.(?) p.(=)