Variant #0000688698 (NC_000002.11:g.233406099C>A, CHRND(NM_000751.2):c.*6077C>A)

Chromosome 2
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.233406099C>A
DNA change (hg38) -
Published as CHRNG(NM_005199.5):c.366C>A (p.F122L)
ISCN -
DB-ID CHRND_000063
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 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRND NM_000751.2 ?/. - c.*6077C>A r.(=) p.(=)
CHRNG NM_005199.4 ?/. - c.366C>A r.(?) p.(Phe122Leu)