Variant #0000607819 (NC_000002.11:g.233407741T>C, CHRNG(NM_005199.4):c.754T>C)

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.233407741T>C
DNA change (hg38) g.232543031T>C
Published as CHRNG(NM_005199.5):c.754T>C (p.C252R)
ISCN -
DB-ID CHRNG_000082
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) 9.0E-5 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     
CHRNG NM_005199.4 ?/. - c.754T>C r.(?) p.(Cys252Arg)
TIGD1 NM_145702.1 ?/. - c.*5076A>G r.(=) p.(=)